R7K (p.Arg7Lys) variant of SLC26A4 (Pendrin)
R7K (p.Arg7Lys) in SLC26A4 (Pendrin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.24 / 1. The record also includes population frequency data and structural context.
R7K (p.Arg7Lys) variant details
- p.Arg7Lys
- 1000Genomes rs560264653
- ExAC rs560264653
- TOPMed rs560264653
- gnomAD rs560264653
- Missense
- Variant Prioritization Score for Impact Estimate 0.236
- REVEL 0.17
- ESM-1b 0.00
- AlphaMissense 0.10
- MetaLR 0.45
- MetaSVM -0.62
- CADD 18.90
- Most common in the 1KG:CDX population (allele frequency 0.017)
- Structural context available