P25Q (p.Pro25Gln) variant of SLC26A4 (Pendrin)
P25Q (p.Pro25Gln) in SLC26A4 (Pendrin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.60 / 1. The record also includes population frequency data, published literature, and structural context.
P25Q (p.Pro25Gln) variant details
- p.Pro25Gln
- gnomAD 7-107661715-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.596
- REVEL 0.58
- ESM-1b 1.00
- AlphaMissense 0.14
- MetaLR 0.74
- MetaSVM 0.50
- CADD 22.80
- Population evidence available
- Structural context available
- Literature evidence available