P14R (p.Pro14Arg) variant of MYH7 (Myosin-7)
P14R (p.Pro14Arg) 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 0.55 / 1. The record also includes population frequency data and structural context.
P14R (p.Pro14Arg) variant details
- p.Pro14Arg
- ExAC rs766301164
- gnomAD rs766301164
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.552
- REVEL 0.41
- ESM-1b 1.00
- AlphaMissense 0.20
- MetaLR 0.46
- MetaSVM -0.25
- CADD 26.40
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available