M21N (p.Met21Asn) variant of SLC26A4 (Pendrin)
M21N (p.Met21Asn) in SLC26A4 (Pendrin) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.71 / 1. The record also includes population frequency data, published literature, and structural context.
M21N (p.Met21Asn) variant details
- p.Met21Asn
- gnomAD 7-107661701-C-CA
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.71
- CADD 24.20
- Most common in the HGDP:CAMBODIAN population (allele frequency 0.25)
- Structural context available
- Literature evidence available