p.Ala5 Asp6insAsnProAla variant of MYO7A (Unconventional myosin-VIIa)
p.Ala5 Asp6insAsnProAla 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.
p.Ala5 Asp6insAsnProAla variant details
- rs1555048553
- gnomAD 11-77138321-C-CGC
- Inframe Insertion
- Variant Prioritization Score for Impact Estimate 0.127
- CADD 6.58
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available
- Literature evidence available