R15K (p.Arg15Lys) variant of MYO7A (Unconventional myosin-VIIa)
R15K (p.Arg15Lys) in MYO7A (Unconventional myosin-VIIa) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.27 / 1. The record also includes population frequency data, published literature, and structural context.
R15K (p.Arg15Lys) variant details
- p.Arg15Lys
- gnomAD 11-77142734-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.267
- REVEL 0.19
- CADD 15.60
- PolyPhen-2 0.00
- SIFT 1.00
- Most common in the African/African-American population (allele frequency 3e-05)
- Structural context available
- Literature evidence available