A19T (p.Ala19Thr) variant of INSR (Insulin receptor)
A19T (p.Ala19Thr) in INSR (Insulin receptor) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.20 / 1. The record also includes population frequency data and structural context.
A19T (p.Ala19Thr) variant details
- p.Ala19Thr
- cosmic curated COSV57173
- TOPMed rs1015767960
- gnomAD rs1015767960
- Missense
- Variant Prioritization Score for Impact Estimate 0.203
- REVEL 0.04
- MetaLR 0.16
- MetaSVM -0.99
- CADD 13.30
- PolyPhen-2 0.04
- SIFT 0.72
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available