N44N (p.Asn44Asn) variant of MYO7A (Unconventional myosin-VIIa)
N44N (p.Asn44Asn) in MYO7A (Unconventional myosin-VIIa) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.15 / 1. The record also includes population frequency data, published literature, and structural context.
N44N (p.Asn44Asn) variant details
- p.Asn44Asn
- rs782722303
- gnomAD 11-77142822-T-C
- Splice Region
- Variant Prioritization Score for Impact Estimate 0.145
- CADD 9.14
- Most common in the East Asian population (allele frequency 0.0001)
- Structural context available
- Literature evidence available