S8L (p.Ser8Leu) variant of SLC26A4 (Pendrin)
S8L (p.Ser8Leu) in SLC26A4 (Pendrin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.29 / 1. The record also includes population frequency data and structural context.
S8L (p.Ser8Leu) variant details
- p.Ser8Leu
- cosmic curated COSV10721
- Ensembl rs34942046
- Missense
- Variant Prioritization Score for Impact Estimate 0.287
- REVEL 0.17
- ESM-1b 0.00
- AlphaMissense 0.09
- MetaLR 0.51
- MetaSVM -0.50
- CADD 21.10
- Most common in the HGDP:PATHAN population (allele frequency 0.14)
- Structural context available