M21R (p.Met21Arg) variant of SLC26A4 (Pendrin)
M21R (p.Met21Arg) in SLC26A4 (Pendrin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.26 / 1. The record also includes population frequency data, published literature, and structural context.
M21R (p.Met21Arg) variant details
- p.Met21Arg
- gnomAD 7-107661703-T-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.26
- REVEL 0.26
- ESM-1b 0.07
- AlphaMissense 0.08
- MetaLR 0.43
- MetaSVM -0.66
- CADD 18.80
- Most common in the HGDP:BRAHUI population (allele frequency 0.065)
- Structural context available
- Literature evidence available