T172A (p.Thr172Ala) variant of FERMT1 (Fermitin family homolog 1)
T172A (p.Thr172Ala) in FERMT1 (Fermitin family homolog 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.19 / 1. The record also includes population frequency data and structural context.
T172A (p.Thr172Ala) variant details
- p.Thr172Ala
- gnomAD rs1227381733
- Missense
- Variant Prioritization Score for Impact Estimate 0.188
- REVEL 0.10
- CADD 17.80
- PolyPhen-2 0.04
- SIFT 0.79
- Most common in the HGDP:FRENCH population (allele frequency 0.019)
- Structural context available