H48Q (p.His48Gln) variant of INSR (Insulin receptor)
H48Q (p.His48Gln) 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.
H48Q (p.His48Gln) variant details
- p.His48Gln
- TOPMed rs1967787579
- Missense
- Variant Prioritization Score for Impact Estimate 0.169
- REVEL 0.20
- MetaLR 0.26
- MetaSVM -1.06
- CADD 0.00
- PolyPhen-2 0.00
- SIFT 0.54
- Most common in the African/African-American population (allele frequency 0.00027)
- Structural context available