P38L (p.Pro38Leu) variant of MYLK (Q15746)
P38L (p.Pro38Leu) in MYLK (Q15746) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.47 / 1. The record also includes population frequency data and structural context.
P38L (p.Pro38Leu) variant details
- p.Pro38Leu
- cosmic curated COSV10525
- gnomAD rs1238513303
- Missense
- Variant Prioritization Score for Impact Estimate 0.475
- REVEL 0.24
- CADD 27.40
- PolyPhen-2 1.00
- SIFT 0.02
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available