R212H (p.Arg212His) variant of MYO7A (Unconventional myosin-VIIa)
R212H (p.Arg212His) in MYO7A (Unconventional myosin-VIIa) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Rare genetic deafness; Usher syndrome; Retinal dystrophy. 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.
R212H (p.Arg212His) variant details
- p.Arg212His
- rs28934610
- ClinGen CA277961
- NCI-TCGA Cosmic COSV6868
- cosmic curated COSV68685
- Pathogenic/Likely pathogenic
- Rare genetic deafness; Usher syndrome; Retinal dystrophy
- Missense
- Variant Prioritization Score for Impact Estimate 0.81
- REVEL 0.90
- CADD 31.00
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic (Rare genetic deafness; Usher syndrome; Retinal dystrophy)
- EBI: Pathogenic (in USH1B)
- UniProt: Pathogenic (in USH1B)
- Most common in the East Asian population (allele frequency 0.00019)
- Structural context available
- Cited in: Expression in cochlea and retina of myosin VIIa, the gene product defective in Usher syndrome type 1B. (PMID 7568224)
- Cited in: Myosin VIIA mutation screening in 189 Usher syndrome type 1 patients. (PMID 8900236)