P10Q (p.Pro10Gln) variant of SLC26A4 (Pendrin)
P10Q (p.Pro10Gln) in SLC26A4 (Pendrin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.32 / 1. The record also includes population frequency data, published literature, and structural context.
P10Q (p.Pro10Gln) variant details
- p.Pro10Gln
- gnomAD 7-107661670-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.323
- REVEL 0.35
- ESM-1b 0.00
- AlphaMissense 0.06
- MetaLR 0.46
- MetaSVM -0.59
- CADD 19.20
- Population evidence available
- Structural context available
- Literature evidence available