S28I (p.Ser28Ile) variant of SLC26A4 (Pendrin)
S28I (p.Ser28Ile) in SLC26A4 (Pendrin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.60 / 1. The record also includes population frequency data, published literature, and structural context.
S28I (p.Ser28Ile) variant details
- p.Ser28Ile
- gnomAD 7-107661724-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.604
- REVEL 0.68
- ESM-1b 1.00
- AlphaMissense 0.82
- MetaLR 0.77
- MetaSVM 0.40
- CADD 24.50
- Population evidence available
- Structural context available
- Literature evidence available