V34A (p.Val34Ala) variant of INSR (Insulin receptor)
V34A (p.Val34Ala) in INSR (Insulin receptor) 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 and structural context.
V34A (p.Val34Ala) variant details
- p.Val34Ala
- TOPMed rs1967789558
- Missense
- Variant Prioritization Score for Impact Estimate 0.571
- REVEL 0.57
- MetaLR 0.55
- MetaSVM 0.17
- CADD 23.50
- PolyPhen-2 0.09
- SIFT 0.00
- Population evidence available
- Structural context available