D13E (p.Asp13Glu) variant of MYO7A (Unconventional myosin-VIIa)
D13E (p.Asp13Glu) in MYO7A (Unconventional myosin-VIIa) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.38 / 1. The record also includes population frequency data and structural context.
D13E (p.Asp13Glu) variant details
- p.Asp13Glu
- rs199989979
- ClinGen CA243131
- ClinVar RCV000177023
- ClinVar RCV001278603
- Conflicting interpretations
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.381
- REVEL 0.37
- CADD 22.20
- PolyPhen-2 0.99
- SIFT 0.50
- ClinVar: Conflicting classifications of pathogenicity (not provided)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the 1KG:MXL population (allele frequency 0.0081)
- Structural context available