S4Y (p.Ser4Tyr) variant of FERMT1 (Fermitin family homolog 1)
S4Y (p.Ser4Tyr) in FERMT1 (Fermitin family homolog 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.33 / 1. The record also includes population frequency data and structural context.
S4Y (p.Ser4Tyr) variant details
- p.Ser4Tyr
- gnomAD rs1242138027
- Missense
- Variant Prioritization Score for Impact Estimate 0.328
- REVEL 0.10
- CADD 23.40
- PolyPhen-2 0.26
- SIFT 0.01
- Most common in the African/African-American population (allele frequency 0.00012)
- Structural context available