V18A (p.Val18Ala) variant of INSR (Insulin receptor)
V18A (p.Val18Ala) in INSR (Insulin receptor) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.17 / 1. The record also includes population frequency data and structural context.
V18A (p.Val18Ala) variant details
- p.Val18Ala
- Ensembl rs1968564563
- Missense
- Variant Prioritization Score for Impact Estimate 0.168
- REVEL 0.09
- MetaLR 0.17
- MetaSVM -1.00
- CADD 13.50
- PolyPhen-2 0.00
- SIFT 0.24
- Population evidence available
- Structural context available