S3P (p.Ser3Pro) variant of FERMT1 (Fermitin family homolog 1)
S3P (p.Ser3Pro) 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. The available variant effect predictions contribute to a CATVariant prioritization score of 0.23 / 1. The record also includes population frequency data, published literature, and structural context.
S3P (p.Ser3Pro) variant details
- p.Ser3Pro
- rs758985794
- ClinGen CA9758569
- ClinVar RCV001991603
- ClinVar RCV005565100
- Uncertain significance
- Inborn genetic diseases; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.226
- REVEL 0.11
- CADD 23.40
- PolyPhen-2 0.46
- SIFT 0.07
- ClinVar: Uncertain significance (Inborn genetic diseases; not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the HGDP:FRENCH population (allele frequency 0.019)
- 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)