V119A (p.Val119Ala) variant of REEP1 (Q9H902)
V119A (p.Val119Ala) in REEP1 (Q9H902) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.52 / 1. The record also includes population frequency data and structural context.
V119A (p.Val119Ala) variant details
- p.Val119Ala
- ESP rs373171938
- ExAC rs373171938
- TOPMed rs373171938
- gnomAD rs373171938
- Missense
- Variant Prioritization Score for Impact Estimate 0.521
- REVEL 0.45
- CADD 24.10
- PolyPhen-2 0.84
- SIFT 0.01
- Most common in the 1KG:CLM population (allele frequency 0.0053)
- Structural context available