V27E (p.Val27Glu) variant of MYO7A (Unconventional myosin-VIIa)
V27E (p.Val27Glu) 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 0.52 / 1. The record also includes population frequency data and structural context.
V27E (p.Val27Glu) variant details
- p.Val27Glu
- rs1951305171
- ClinGen CA381926323
- ClinVar RCV001883030
- TOPMed rs1951305171
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.524
- REVEL 0.53
- CADD 22.90
- PolyPhen-2 0.35
- SIFT 0.17
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available