A20T (p.Ala20Thr) variant of INSR (Insulin receptor)
A20T (p.Ala20Thr) in INSR (Insulin receptor) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.23 / 1. The record also includes population frequency data and structural context.
A20T (p.Ala20Thr) variant details
- p.Ala20Thr
- gnomAD rs1320365670
- Missense
- Variant Prioritization Score for Impact Estimate 0.235
- REVEL 0.09
- MetaLR 0.14
- MetaSVM -0.99
- CADD 16.90
- PolyPhen-2 0.03
- SIFT 0.66
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available