P4Q (p.Pro4Gln) variant of SLC26A4 (Pendrin)
P4Q (p.Pro4Gln) in SLC26A4 (Pendrin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.26 / 1. The record also includes population frequency data, published literature, and structural context.
P4Q (p.Pro4Gln) variant details
- p.Pro4Gln
- gnomAD 7-107661652-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.261
- REVEL 0.16
- ESM-1b 0.00
- AlphaMissense 0.08
- MetaLR 0.49
- MetaSVM -0.30
- CADD 21.80
- Population evidence available
- Structural context available
- Literature evidence available