V1372G (p.Val1372Gly) variant of MYO7A (Unconventional myosin-VIIa)
V1372G (p.Val1372Gly) in MYO7A (Unconventional myosin-VIIa) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Usher syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.80 / 1. The record also includes population frequency data, published literature, and structural context.
V1372G (p.Val1372Gly) variant details
- p.Val1372Gly
- rs869312181
- ClinGen CA353603
- ClinVar RCV000210299
- ClinVar RCV000225646
- Likely pathogenic
- Usher syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.803
- REVEL 0.87
- CADD 33.00
- PolyPhen-2 0.95
- SIFT 0.00
- ClinVar: Likely pathogenic (Usher syndrome)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Most common in the African/African-American population (allele frequency 3e-05)
- Structural context available
- Cited in: Usher Syndrome Type I. (PMID 20301442)
- Cited in: Clinical utility gene card for: Usher syndrome. (PMID 21697857)