P10A (p.Pro10Ala) variant of SLC26A4 (Pendrin)
P10A (p.Pro10Ala) in SLC26A4 (Pendrin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.30 / 1. The record also includes population frequency data, published literature, and structural context.
P10A (p.Pro10Ala) variant details
- p.Pro10Ala
- gnomAD 7-107661669-C-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.302
- REVEL 0.29
- ESM-1b 0.00
- AlphaMissense 0.06
- MetaLR 0.47
- MetaSVM -0.49
- CADD 20.70
- Population evidence available
- Structural context available
- Literature evidence available