G25R (p.Gly25Arg) variant of MYO7A (Unconventional myosin-VIIa)
G25R (p.Gly25Arg) in MYO7A (Unconventional myosin-VIIa) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of not provided; Retinal dystrophy; Usher syndrome type 1B. The available variant effect predictions contribute to a CATVariant prioritization score of 0.88 / 1. The record also includes population frequency data, published literature, and structural context.
G25R (p.Gly25Arg) variant details
- p.Gly25Arg
- rs782252317
- ClinGen CA278727
- cosmic curated COSV10534
- ClinVar RCV000154329
- Pathogenic
- not provided; Retinal dystrophy; Usher syndrome type 1B
- Missense
- Variant Prioritization Score for Impact Estimate 0.879
- REVEL 0.94
- CADD 27.90
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic (not provided; Retinal dystrophy; Usher syndrome type 1B)
- EBI: Pathogenic (in USH1B)
- UniProt: Pathogenic (in USH1B)
- Most common in the Latino/Admixed American population (allele frequency 2.2e-05)
- Structural context available
- Cited in: Characterization of Usher syndrome type I gene mutations in an Usher syndrome patient population. (PMID 15660226)
- Cited in: Myosin VIIA gene: heterogeneity of the mutations responsible for Usher syndrome type IB. (PMID 9002678)