R15C (p.Arg15Cys) variant of MYO7A (Unconventional myosin-VIIa)
R15C (p.Arg15Cys) in MYO7A (Unconventional myosin-VIIa) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.13 / 1. The record also includes population frequency data, published literature, and structural context.
R15C (p.Arg15Cys) variant details
- p.Arg15Cys
- rs1294359545
- gnomAD 11-77138343-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.135
- CADD 7.64
- Most common in the African/African-American population (allele frequency 2.7e-05)
- Structural context available
- Literature evidence available