R27L (p.Arg27Leu) variant of MYPN (Myopalladin)
R27L (p.Arg27Leu) in MYPN (Myopalladin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.14 / 1. The record also includes population frequency data, published literature, and structural context.
R27L (p.Arg27Leu) variant details
- p.Arg27Leu
- gnomAD 10-68121518-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.143
- REVEL 0.08
- CADD 15.20
- PolyPhen-2 0.07
- SIFT 0.01
- Most common in the Non-Finnish European population (allele frequency 2.7e-06)
- Structural context available
- Literature evidence available