R1168W (p.Arg1168Trp) variant of MYO7A (Unconventional myosin-VIIa)
R1168W (p.Arg1168Trp) in MYO7A (Unconventional myosin-VIIa) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Autosomal recessive nonsyndromic hearing loss 2; Usher syndrome type 1; MYO7A-re. The available variant effect predictions contribute to a CATVariant prioritization score of 0.84 / 1. The record also includes population frequency data, published literature, and structural context.
R1168W (p.Arg1168Trp) variant details
- p.Arg1168Trp
- rs554073390
- ClinGen CA6198073
- ClinVar RCV000668846
- ClinVar RCV000790513
- Conflicting interpretations
- Autosomal recessive nonsyndromic hearing loss 2; Usher syndrome type 1; MYO7A-re
- Missense
- Variant Prioritization Score for Impact Estimate 0.842
- REVEL 0.95
- CADD 29.10
- PolyPhen-2 1.00
- SIFT 0.02
- ClinVar: Conflicting classifications of pathogenicity (Autosomal recessive nonsyndromic hearing loss 2; Usher syndrome)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Most common in the 1KG:BEB population (allele frequency 0.0053)
- Structural context available
- Cited in: Genetic Hearing Loss Overview. (PMID 20301607)
- Cited in: Usher Syndrome Type I. (PMID 20301442)