P187L (p.Pro187Leu) variant of INSR (Insulin receptor)
P187L (p.Pro187Leu) in INSR (Insulin receptor) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.83 / 1. The record also includes population frequency data and structural context.
P187L (p.Pro187Leu) variant details
- p.Pro187Leu
- cosmic curated COSV57166
- TOPMed rs1412618950
- Missense
- Variant Prioritization Score for Impact Estimate 0.832
- REVEL 0.83
- MetaLR 0.95
- MetaSVM 1.10
- CADD 25.80
- PolyPhen-2 0.93
- SIFT 0.00
- Most common in the African/African-American population (allele frequency 3e-05)
- Structural context available