S34F (p.Ser34Phe) variant of FERMT1 (Fermitin family homolog 1)
S34F (p.Ser34Phe) in FERMT1 (Fermitin family homolog 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.38 / 1. The record also includes population frequency data and structural context.
S34F (p.Ser34Phe) variant details
- p.Ser34Phe
- Ensembl rs1983203164
- Missense
- Variant Prioritization Score for Impact Estimate 0.379
- REVEL 0.18
- CADD 24.30
- PolyPhen-2 0.34
- SIFT 0.02
- Most common in the African/African-American population (allele frequency 4.8e-05)
- Structural context available