M137L (p.Met137Leu) variant of INSR (Insulin receptor)
M137L (p.Met137Leu) in INSR (Insulin receptor) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.45 / 1. The record also includes population frequency data and structural context.
M137L (p.Met137Leu) variant details
- p.Met137Leu
- ExAC rs778361303
- gnomAD rs778361303
- Missense
- Variant Prioritization Score for Impact Estimate 0.446
- REVEL 0.44
- MetaLR 0.36
- MetaSVM -0.43
- CADD 21.70
- PolyPhen-2 0.23
- SIFT 0.00
- Most common in the South Asian population (allele frequency 2.3e-05)
- Structural context available