P82A (p.Pro82Ala) variant of MYH7 (Myosin-7)
P82A (p.Pro82Ala) in MYH7 (Myosin-7) 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 0.80 / 1. The record also includes structural context.
P82A (p.Pro82Ala) variant details
- p.Pro82Ala
- rs2502320292
- ClinGen CA389053379
- ClinVar RCV003131644
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.796
- REVEL 0.80
- ESM-1b 1.00
- AlphaMissense 0.73
- MetaLR 0.87
- MetaSVM 0.98
- CADD 28.80
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available