P171A (p.Pro171Ala) variant of FERMT1 (Fermitin family homolog 1)
P171A (p.Pro171Ala) in FERMT1 (Fermitin family homolog 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.12 / 1. The record also includes population frequency data and structural context.
P171A (p.Pro171Ala) variant details
- p.Pro171Ala
- gnomAD rs1280691705
- Missense
- Variant Prioritization Score for Impact Estimate 0.125
- REVEL 0.05
- CADD 13.70
- PolyPhen-2 0.04
- SIFT 0.26
- Most common in the 1KG:CLM population (allele frequency 0.0053)
- Structural context available