R1240W (p.Arg1240Trp) variant of MYO7A (Unconventional myosin-VIIa)
R1240W (p.Arg1240Trp) 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 Usher syndrome type 1; Usher syndrome type 1B; Autosomal recessive nonsyndromic. The available variant effect predictions contribute to a CATVariant prioritization score of 0.74 / 1. The record also includes population frequency data, published literature, and structural context.
R1240W (p.Arg1240Trp) variant details
- p.Arg1240Trp
- rs371374104
- ClinGen CA6198176
- cosmic curated COSV68683
- ClinVar RCV001238581
- Pathogenic/Likely pathogenic
- Usher syndrome type 1; Usher syndrome type 1B; Autosomal recessive nonsyndromic
- Missense
- Variant Prioritization Score for Impact Estimate 0.738
- REVEL 0.92
- CADD 24.00
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic (Usher syndrome type 1; Usher syndrome type 1B; Autosomal recessi)
- EBI: Pathogenic (in USH1B)
- UniProt: Pathogenic (in USH1B)
- Population evidence available
- Structural context available
- Cited in: Genetic Hearing Loss Overview. (PMID 20301607)
- Cited in: Usher Syndrome Type I. (PMID 20301442)