R244C (p.Arg244Cys) variant of MYO7A (Unconventional myosin-VIIa)
R244C (p.Arg244Cys) in MYO7A (Unconventional myosin-VIIa) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Usher syndrome type 1B; MYO7A-related disorder. The available variant effect predictions contribute to a CATVariant prioritization score of 0.70 / 1. The record also includes population frequency data and structural context.
R244C (p.Arg244Cys) variant details
- p.Arg244Cys
- rs373942326
- ClinGen CA6197224
- cosmic curated COSV10128
- ClinVar RCV004536700
- Likely pathogenic
- Usher syndrome type 1B; MYO7A-related disorder
- Missense
- Variant Prioritization Score for Impact Estimate 0.703
- REVEL 0.66
- CADD 26.40
- PolyPhen-2 0.99
- SIFT 0.01
- ClinVar: Likely pathogenic (Usher syndrome type 1B; MYO7A-related disorder)
- EBI: Likely pathogenic (in DFNB2)
- UniProt: Likely pathogenic (in DFNB2)
- Most common in the Ashkenazi Jewish population (allele frequency 0.00029)
- Structural context available