M21V (p.Met21Val) variant of SLC26A4 (Pendrin)
M21V (p.Met21Val) in SLC26A4 (Pendrin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of not specified; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.25 / 1. The record also includes population frequency data and structural context.
M21V (p.Met21Val) variant details
- p.Met21Val
- rs375716219
- ClinGen CA4432355
- ClinVar RCV000607476
- ClinVar RCV003558453
- Conflicting interpretations
- not specified; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.246
- REVEL 0.19
- ESM-1b 0.00
- AlphaMissense 0.05
- MetaLR 0.29
- MetaSVM -0.80
- CADD 16.60
- ClinVar: Conflicting classifications of pathogenicity (not specified; not provided)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the 1KG:CHB population (allele frequency 0.015)
- Structural context available