P11S (p.Pro11Ser) variant of SLC26A4 (Pendrin)
P11S (p.Pro11Ser) in SLC26A4 (Pendrin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.41 / 1. The record also includes population frequency data and structural context.
P11S (p.Pro11Ser) variant details
- p.Pro11Ser
- gnomAD rs1249173005
- Missense
- Variant Prioritization Score for Impact Estimate 0.406
- REVEL 0.32
- ESM-1b 0.00
- AlphaMissense 0.07
- MetaLR 0.43
- MetaSVM -0.43
- CADD 20.90
- Most common in the 1KG:CDX population (allele frequency 0.017)
- Structural context available