P23R (p.Pro23Arg) variant of MYO7A (Unconventional myosin-VIIa)
P23R (p.Pro23Arg) in MYO7A (Unconventional myosin-VIIa) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.40 / 1. The record also includes population frequency data, published literature, and structural context.
P23R (p.Pro23Arg) variant details
- p.Pro23Arg
- rs991138064
- gnomAD 11-77138338-C-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.405
- CADD 6.89
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available
- Literature evidence available