G175A (p.Gly175Ala) variant of FERMT1 (Fermitin family homolog 1)
G175A (p.Gly175Ala) in FERMT1 (Fermitin family homolog 1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Inborn genetic diseases; not provided; Kindler syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.36 / 1. The record also includes population frequency data, published literature, and structural context.
G175A (p.Gly175Ala) variant details
- p.Gly175Ala
- rs755393121
- ClinGen CA9758449
- ClinVar RCV001138873
- ClinVar RCV001856778
- Uncertain significance
- Inborn genetic diseases; not provided; Kindler syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.358
- REVEL 0.21
- CADD 14.90
- PolyPhen-2 0.02
- SIFT 0.08
- ClinVar: Uncertain significance (Inborn genetic diseases; not provided; Kindler syndrome)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available
- Cited in: Specific guidelines for assessing and improving the methodological quality of economic evaluations of newborn screening. (PMID 22947299)
- Cited in: Including the initial newborn screening bloodspot collection device serial number on birth certificates: basis and… (PMID 23037933)