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 record also includes structural context.
P82A (p.Pro82Ala) variant details
- p.Pro82Ala
- rs2502320292
- ClinGen CA389053379
- ClinVar RCV003131644
- Uncertain significance
- not provided
- Missense
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available