S23P (p.Ser23Pro) variant of SLC26A4 (Pendrin)
S23P (p.Ser23Pro) in SLC26A4 (Pendrin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.51 / 1. The record also includes population frequency data, published literature, and structural context.
S23P (p.Ser23Pro) variant details
- p.Ser23Pro
- gnomAD 7-107661708-T-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.512
- REVEL 0.57
- ESM-1b 0.33
- AlphaMissense 0.39
- MetaLR 0.67
- MetaSVM 0.07
- CADD 24.20
- Population evidence available
- Structural context available
- Literature evidence available