A35V (p.Ala35Val) variant of MYPN (Myopalladin)
A35V (p.Ala35Val) in MYPN (Myopalladin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Dilated cardiomyopathy 1KK. The available variant effect predictions contribute to a CATVariant prioritization score of 0.44 / 1. The record also includes population frequency data and structural context.
A35V (p.Ala35Val) variant details
- p.Ala35Val
- rs775961606
- ClinGen CA5522224
- ClinVar RCV003072828
- ExAC rs775961606
- Uncertain significance
- Dilated cardiomyopathy 1KK
- Missense
- Variant Prioritization Score for Impact Estimate 0.44
- REVEL 0.21
- CADD 23.60
- PolyPhen-2 0.43
- SIFT 0.04
- ClinVar: Uncertain significance (Dilated cardiomyopathy 1KK)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 8.1e-06)
- Structural context available