D13H (p.Asp13His) variant of MYO7A (Unconventional myosin-VIIa)
D13H (p.Asp13His) in MYO7A (Unconventional myosin-VIIa) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.85 / 1. The record also includes population frequency data and structural context.
D13H (p.Asp13His) variant details
- p.Asp13His
- rs1555051432
- ClinGen CA381947541
- ClinVar RCV001069821
- ClinVar RCV001828521
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.854
- REVEL 0.89
- CADD 29.30
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 2.9e-05)
- Structural context available