D85V (p.Asp85Val) variant of FERMT1 (Fermitin family homolog 1)
D85V (p.Asp85Val) in FERMT1 (Fermitin family homolog 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.55 / 1. The record also includes population frequency data and structural context.
D85V (p.Asp85Val) variant details
- p.Asp85Val
- ExAC rs776160144
- TOPMed rs776160144
- gnomAD rs776160144
- Missense
- Variant Prioritization Score for Impact Estimate 0.551
- REVEL 0.48
- CADD 27.10
- PolyPhen-2 0.95
- SIFT 0.00
- Most common in the HGDP:BURUSHO population (allele frequency 0.042)
- Structural context available