V34M (p.Val34Met) variant of INSR (Insulin receptor)
V34M (p.Val34Met) in INSR (Insulin receptor) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.43 / 1. The record also includes population frequency data and structural context.
V34M (p.Val34Met) variant details
- p.Val34Met
- Ensembl rs1568243471
- Missense
- Variant Prioritization Score for Impact Estimate 0.429
- REVEL 0.24
- MetaLR 0.45
- MetaSVM -0.38
- CADD 28.60
- PolyPhen-2 0.09
- SIFT 0.01
- Most common in the Non-Finnish European population (allele frequency 2e-06)
- Structural context available