P11Q (p.Pro11Gln) variant of SLC26A4 (Pendrin)
P11Q (p.Pro11Gln) in SLC26A4 (Pendrin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.38 / 1. The record also includes population frequency data and structural context.
P11Q (p.Pro11Gln) variant details
- p.Pro11Gln
- gnomAD rs1464881318
- Missense
- Variant Prioritization Score for Impact Estimate 0.379
- REVEL 0.29
- ESM-1b 0.00
- AlphaMissense 0.07
- MetaLR 0.40
- MetaSVM -0.62
- CADD 17.10
- Most common in the HGDP:PATHAN population (allele frequency 0.14)
- Structural context available