K2021R (p.Lys2021Arg) variant of MYO7A (Unconventional myosin-VIIa)
K2021R (p.Lys2021Arg) 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 type 1. The available variant effect predictions contribute to a CATVariant prioritization score of 0.69 / 1. The record also includes population frequency data, published literature, and structural context.
K2021R (p.Lys2021Arg) variant details
- p.Lys2021Arg
- rs876657655
- ClinGen CA10576905
- ClinVar RCV000223094
- ClinVar RCV000675133
- Uncertain significance
- Usher syndrome type 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.686
- REVEL 0.75
- CADD 23.90
- PolyPhen-2 0.20
- SIFT 0.05
- ClinVar: Uncertain significance (not provided)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available
- Cited in: Usher Syndrome Type I. (PMID 20301442)
- Cited in: Clinical utility gene card for: Usher syndrome. (PMID 21697857)