P41L (p.Pro41Leu) variant of MYPN (Myopalladin)
P41L (p.Pro41Leu) in MYPN (Myopalladin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.38 / 1. The record also includes population frequency data and structural context.
P41L (p.Pro41Leu) variant details
- p.Pro41Leu
- cosmic curated COSV99057
- ExAC rs767471955
- TOPMed rs767471955
- gnomAD rs767471955
- Missense
- Variant Prioritization Score for Impact Estimate 0.379
- REVEL 0.12
- CADD 21.00
- PolyPhen-2 0.08
- SIFT 0.82
- Most common in the HGDP:KALASH population (allele frequency 0.024)
- Structural context available