M38V (p.Met38Val) variant of INSR (Insulin receptor)
M38V (p.Met38Val) in INSR (Insulin receptor) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.36 / 1. The record also includes population frequency data and structural context.
M38V (p.Met38Val) variant details
- p.Met38Val
- TOPMed rs1967788976
- Missense
- Variant Prioritization Score for Impact Estimate 0.355
- REVEL 0.28
- MetaLR 0.34
- MetaSVM -0.58
- CADD 19.40
- PolyPhen-2 0.00
- SIFT 0.01
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available