G53R (p.Gly53Arg) variant of MYPN (Myopalladin)
G53R (p.Gly53Arg) in MYPN (Myopalladin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.36 / 1. The record also includes population frequency data, published literature, and structural context.
G53R (p.Gly53Arg) variant details
- p.Gly53Arg
- gnomAD 10-68121595-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.356
- REVEL 0.09
- CADD 23.50
- PolyPhen-2 0.05
- SIFT 0.01
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available