T6A (p.Thr6Ala) variant of AVPR2 (Vasopressin V2 receptor)
T6A (p.Thr6Ala) in AVPR2 (Vasopressin V2 receptor) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.31 / 1. The record also includes population frequency data, published literature, and structural context.
T6A (p.Thr6Ala) variant details
- p.Thr6Ala
- gnomAD X-153905161-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.308
- CADD 5.09
- PolyPhen-2 0.00
- SIFT 0.30
- Population evidence available
- Structural context available
- Literature evidence available