R24L (p.Arg24Leu) variant of SLC26A4 (Pendrin)
R24L (p.Arg24Leu) in SLC26A4 (Pendrin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.91 / 1. The record also includes population frequency data, published literature, and structural context.
R24L (p.Arg24Leu) variant details
- p.Arg24Leu
- rs1349370504
- ClinGen CA368844952
- ClinVar RCV001291241
- ClinVar RCV005094349
- Likely pathogenic
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.913
- REVEL 0.95
- ESM-1b 1.00
- AlphaMissense 0.94
- MetaLR 0.91
- MetaSVM 1.01
- CADD 31.00
- ClinVar: Likely pathogenic (not provided)
- EBI: Likely pathogenic (in PDS/DFNB4)
- UniProt: Likely pathogenic (in PDS/DFNB4)
- Most common in the HGDP:YORUBA population (allele frequency 0.024)
- Structural context available
- Cited in: Genetic Hearing Loss Overview. (PMID 20301607)