S211G (p.Ser211Gly) variant of MYO7A (Unconventional myosin-VIIa)
S211G (p.Ser211Gly) in MYO7A (Unconventional myosin-VIIa) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic 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.
S211G (p.Ser211Gly) variant details
- p.Ser211Gly
- rs111033486
- ClinGen CA278707
- ClinVar RCV000036230
- ClinVar RCV000675104
- Pathogenic
- Usher syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.814
- REVEL 0.96
- CADD 26.20
- PolyPhen-2 0.98
- SIFT 0.00
- ClinVar: Pathogenic (Usher syndrome)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the Non-Finnish European population (allele frequency 0.0001)
- Structural context available
- Cited in: Genetic Hearing Loss Overview. (PMID 20301607)
- Cited in: Usher Syndrome Type I. (PMID 20301442)