p.Glu2 Asp3insHisProAla variant of MYO7A (Unconventional myosin-VIIa)
p.Glu2 Asp3insHisProAla in MYO7A (Unconventional myosin-VIIa) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.35 / 1. The record also includes population frequency data, published literature, and structural context.
p.Glu2 Asp3insHisProAla variant details
- rs1555048538
- gnomAD 11-77138315-G-GCA
- Inframe Insertion
- Variant Prioritization Score for Impact Estimate 0.353
- CADD 16.40
- Most common in the 1KG:CDX population (allele frequency 0.016)
- Structural context available
- Literature evidence available