P4T (p.Pro4Thr) variant of SLC26A4 (Pendrin)
P4T (p.Pro4Thr) 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.
P4T (p.Pro4Thr) variant details
- p.Pro4Thr
- gnomAD 7-107661651-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.301
- REVEL 0.26
- ESM-1b 0.00
- AlphaMissense 0.07
- MetaLR 0.49
- MetaSVM -0.37
- CADD 19.40
- Population evidence available
- Structural context available
- Literature evidence available