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 0.54 / 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 0.543
- REVEL 0.41
- CADD 22.30
- PolyPhen-2 0.00
- SIFT 0.15
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Ashkenazi Jewish population (allele frequency 7.7e-05)
- Structural context available