A9T (p.Ala9Thr) variant of AVPR2 (Vasopressin V2 receptor)
A9T (p.Ala9Thr) in AVPR2 (Vasopressin V2 receptor) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. The available variant effect predictions contribute to a CATVariant prioritization score of 0.58 / 1. The record also includes population frequency data and structural context.
A9T (p.Ala9Thr) variant details
- p.Ala9Thr
- rs368567969
- NCI-TCGA Cosmic COSV6168
- cosmic curated COSV61686
- ExAC rs368567969
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.577
- CADD 24.60
- PolyPhen-2 0.00
- SIFT 0.18
- UniProt: Variant assessed as somatic; moderate impact.
- Population evidence available
- Structural context available