V108A (p.Val108Ala) variant of REEP1 (Q9H902)
V108A (p.Val108Ala) in REEP1 (Q9H902) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.57 / 1. The record also includes population frequency data, published literature, and structural context.
V108A (p.Val108Ala) variant details
- p.Val108Ala
- rs1454076238
- gnomAD 2-86232650-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.57
- CADD 11.60
- Population evidence available
- Structural context available
- Literature evidence available