R241G (p.Arg241Gly) variant of MYO7A (Unconventional myosin-VIIa)
R241G (p.Arg241Gly) in MYO7A (Unconventional myosin-VIIa) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of not provided; Autosomal dominant nonsyndromic hearing loss 11; Autosomal recessi. The available variant effect predictions contribute to a CATVariant prioritization score of 0.77 / 1. The record also includes population frequency data, published literature, and structural context.
R241G (p.Arg241Gly) variant details
- p.Arg241Gly
- rs782166819
- ClinGen CA381932292
- ClinVar RCV003037417
- ClinVar RCV005002926
- Pathogenic/Likely pathogenic
- not provided; Autosomal dominant nonsyndromic hearing loss 11; Autosomal recessi
- Missense
- Variant Prioritization Score for Impact Estimate 0.769
- REVEL 0.88
- CADD 28.40
- PolyPhen-2 0.99
- SIFT 0.01
- ClinVar: Pathogenic/Likely pathogenic (not provided; Autosomal dominant nonsyndromic hearing loss 11; A)
- EBI: Pathogenic (in USH1B)
- UniProt: Pathogenic (in USH1B)
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available
- Cited in: Genetic Hearing Loss Overview. (PMID 20301607)
- Cited in: Usher Syndrome Type I. (PMID 20301442)