N129S (p.Asn129Ser) variant of FERMT1 (Fermitin family homolog 1)
N129S (p.Asn129Ser) in FERMT1 (Fermitin family homolog 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.47 / 1. The record also includes population frequency data and structural context.
N129S (p.Asn129Ser) variant details
- p.Asn129Ser
- Ensembl rs1982985477
- Missense
- Variant Prioritization Score for Impact Estimate 0.473
- REVEL 0.38
- CADD 23.10
- PolyPhen-2 0.31
- SIFT 0.20
- Most common in the 1KG:CLM population (allele frequency 0.0053)
- Structural context available