P40A (p.Pro40Ala) variant of MYH7 (Myosin-7)
P40A (p.Pro40Ala) in MYH7 (Myosin-7) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.57 / 1. The record also includes population frequency data and structural context.
P40A (p.Pro40Ala) variant details
- p.Pro40Ala
- TOPMed rs1893037347
- gnomAD rs1893037347
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.57
- REVEL 0.46
- ESM-1b 0.00
- AlphaMissense 0.08
- MetaLR 0.81
- MetaSVM 0.83
- CADD 33.00
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available