A132T (p.Ala132Thr) variant of HAVCR2 (Q8TDQ0)
A132T (p.Ala132Thr) in HAVCR2 (Q8TDQ0) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.19 / 1. The record also includes population frequency data and structural context.
A132T (p.Ala132Thr) variant details
- p.Ala132Thr
- cosmic curated COSV10966
- gnomAD rs1246966884
- Missense
- Variant Prioritization Score for Impact Estimate 0.192
- REVEL 0.03
- CADD 24.30
- PolyPhen-2 0.38
- SIFT 0.01
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available