H74R (p.His74Arg) variant of FERMT1 (Fermitin family homolog 1)
H74R (p.His74Arg) in FERMT1 (Fermitin family homolog 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.32 / 1. The record also includes population frequency data and structural context.
H74R (p.His74Arg) variant details
- p.His74Arg
- ExAC rs749909572
- TOPMed rs749909572
- Missense
- Variant Prioritization Score for Impact Estimate 0.319
- REVEL 0.14
- CADD 18.20
- PolyPhen-2 0.14
- SIFT 1.00
- Most common in the HGDP:BURUSHO population (allele frequency 0.042)
- Structural context available