H38Y (p.His38Tyr) variant of FERMT1 (Fermitin family homolog 1)
H38Y (p.His38Tyr) 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. The available variant effect predictions contribute to a CATVariant prioritization score of 0.66 / 1. The record also includes population frequency data and structural context.
H38Y (p.His38Tyr) variant details
- p.His38Tyr
- ExAC rs775020997
- TOPMed rs775020997
- gnomAD rs775020997
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.665
- REVEL 0.58
- CADD 26.20
- PolyPhen-2 0.97
- SIFT 0.00
- ClinVar: Uncertain significance (Inborn genetic diseases)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available