D40G (p.Asp40Gly) variant of MYO7A (Unconventional myosin-VIIa)
D40G (p.Asp40Gly) 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 0.57 / 1. The record also includes structural context.
D40G (p.Asp40Gly) variant details
- p.Asp40Gly
- rs2135628856
- ClinGen CA381926566
- ClinVar RCV001767885
- Ensembl rs2135628856
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.574
- AlphaMissense 0.94
- MetaLR 0.50
- MetaSVM 0.08
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.80
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available