R666Q (p.Arg666Gln) variant of MYO7A (Unconventional myosin-VIIa)
R666Q (p.Arg666Gln) in MYO7A (Unconventional myosin-VIIa) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Usher syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.81 / 1. The record also includes population frequency data, published literature, and structural context.
R666Q (p.Arg666Gln) variant details
- p.Arg666Gln
- rs782396605
- ClinGen CA6197659
- NCI-TCGA Cosmic COSV6868
- cosmic curated COSV68683
- Uncertain significance
- Usher syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.815
- REVEL 0.84
- AlphaMissense 1.00
- MetaLR 0.79
- MetaSVM 0.91
- CADD 26.40
- PolyPhen-2 1.00
- ClinVar: Uncertain significance (Usher syndrome)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the HGDP:MANDENKA population (allele frequency 0.025)
- Structural context available
- Cited in: Usher Syndrome Type I. (PMID 20301442)
- Cited in: Clinical utility gene card for: Usher syndrome. (PMID 21697857)