P25T (p.Pro25Thr) variant of SLC26A4 (Pendrin)
P25T (p.Pro25Thr) in SLC26A4 (Pendrin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.69 / 1. The record also includes population frequency data and structural context.
P25T (p.Pro25Thr) variant details
- p.Pro25Thr
- 1000Genomes rs551733961
- ExAC rs551733961
- TOPMed rs551733961
- gnomAD rs551733961
- Missense
- Variant Prioritization Score for Impact Estimate 0.689
- REVEL 0.61
- ESM-1b 1.00
- AlphaMissense 0.13
- MetaLR 0.78
- MetaSVM 0.59
- CADD 25.00
- Most common in the 1KG:FIN population (allele frequency 0.0051)
- Structural context available