A4A (p.Ala4Ala) variant of AVPR2 (Vasopressin V2 receptor)
A4A (p.Ala4Ala) in AVPR2 (Vasopressin V2 receptor) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.08 / 1. The record also includes population frequency data, published literature, and structural context.
A4A (p.Ala4Ala) variant details
- p.Ala4Ala
- rs61748993
- gnomAD X-153905157-G-A
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.0824
- CADD 0.25
- Population evidence available
- Structural context available
- Cited in: Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American… (PMID 25741868)