P28L (p.Pro28Leu) variant of MYLK (Q15746)
P28L (p.Pro28Leu) in MYLK (Q15746) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. The available variant effect predictions contribute to a CATVariant prioritization score of 0.32 / 1. The record also includes population frequency data and structural context.
P28L (p.Pro28Leu) variant details
- p.Pro28Leu
- NCI-TCGA Cosmic COSV1006
- cosmic curated COSV10065
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.322
- REVEL 0.09
- CADD 23.50
- PolyPhen-2 0.34
- SIFT 0.00
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available