V22A (p.Val22Ala) variant of MYO7A (Unconventional myosin-VIIa)
V22A (p.Val22Ala) 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 0.79 / 1. The record also includes structural context.
V22A (p.Val22Ala) variant details
- p.Val22Ala
- rs1555051493
- ClinGen CA381947688
- ClinVar RCV003699681
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.793
- AlphaMissense 0.82
- MetaLR 0.77
- MetaSVM 0.69
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.79
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available