G5D (p.Gly5Asp) variant of SLC26A4 (Pendrin)
G5D (p.Gly5Asp) in SLC26A4 (Pendrin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.41 / 1. The record also includes population frequency data, published literature, and structural context.
G5D (p.Gly5Asp) variant details
- p.Gly5Asp
- gnomAD 7-107661655-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.415
- REVEL 0.33
- ESM-1b 0.00
- AlphaMissense 0.10
- MetaLR 0.51
- MetaSVM -0.54
- CADD 22.60
- Most common in the Latino/Admixed American population (allele frequency 0.00011)
- Structural context available
- Literature evidence available