C18R (p.Cys18Arg) variant of SLC26A4 (Pendrin)
C18R (p.Cys18Arg) in SLC26A4 (Pendrin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.40 / 1. The record also includes population frequency data and structural context.
C18R (p.Cys18Arg) variant details
- p.Cys18Arg
- TOPMed rs924930485
- gnomAD rs924930485
- Missense
- Variant Prioritization Score for Impact Estimate 0.404
- REVEL 0.32
- ESM-1b 0.00
- AlphaMissense 0.09
- MetaLR 0.38
- MetaSVM -0.73
- CADD 14.50
- Most common in the HGDP:TUSCAN population (allele frequency 1)
- Structural context available