S34P (p.Ser34Pro) variant of FERMT1 (Fermitin family homolog 1)
S34P (p.Ser34Pro) in FERMT1 (Fermitin family homolog 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.30 / 1. The record also includes population frequency data and structural context.
S34P (p.Ser34Pro) variant details
- p.Ser34Pro
- ExAC rs773695393
- gnomAD rs773695393
- Missense
- Variant Prioritization Score for Impact Estimate 0.302
- REVEL 0.23
- CADD 22.20
- PolyPhen-2 0.00
- SIFT 0.15
- Most common in the African/African-American population (allele frequency 4.8e-05)
- Structural context available