P41A (p.Pro41Ala) variant of MYPN (Myopalladin)
P41A (p.Pro41Ala) in MYPN (Myopalladin) 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 0.20 / 1. The record also includes population frequency data and structural context.
P41A (p.Pro41Ala) variant details
- p.Pro41Ala
- ExAC rs759400657
- TOPMed rs759400657
- gnomAD rs759400657
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.201
- REVEL 0.07
- CADD 13.70
- PolyPhen-2 0.02
- SIFT 0.76
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available