D41N (p.Asp41Asn) variant of MYO7A (Unconventional myosin-VIIa)
D41N (p.Asp41Asn) in MYO7A (Unconventional myosin-VIIa) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.65 / 1. The record also includes population frequency data and structural context.
D41N (p.Asp41Asn) variant details
- p.Asp41Asn
- ExAC rs782032952
- gnomAD rs782032952
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.648
- REVEL 0.52
- CADD 32.00
- PolyPhen-2 0.99
- SIFT 0.00
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 2.7e-06)
- Structural context available