P25S (p.Pro25Ser) variant of SLC26A4 (Pendrin)
P25S (p.Pro25Ser) in SLC26A4 (Pendrin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.53 / 1. The record also includes population frequency data and structural context.
P25S (p.Pro25Ser) variant details
- p.Pro25Ser
- 1000Genomes rs551733961
- ExAC rs551733961
- TOPMed rs551733961
- gnomAD rs551733961
- Missense
- Variant Prioritization Score for Impact Estimate 0.535
- REVEL 0.36
- ESM-1b 0.76
- AlphaMissense 0.14
- MetaLR 0.67
- MetaSVM 0.12
- CADD 22.60
- Most common in the 1KG:CEU population (allele frequency 0.0042)
- Structural context available