A2A (p.Ala2Ala) variant of SLC26A4 (Pendrin)
A2A (p.Ala2Ala) in SLC26A4 (Pendrin) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.16 / 1. The record also includes population frequency data, published literature, and structural context.
A2A (p.Ala2Ala) variant details
- p.Ala2Ala
- gnomAD 7-107661647-A-G
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.16
- CADD 11.20
- Population evidence available
- Structural context available
- Literature evidence available