R55L (p.Arg55Leu) variant of MYLK (Q15746)
R55L (p.Arg55Leu) in MYLK (Q15746) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Cardiovascular phenotype. 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.
R55L (p.Arg55Leu) variant details
- p.Arg55Leu
- rs768984022
- NCI-TCGA Cosmic COSV1006
- cosmic curated COSV10065
- ExAC rs768984022
- Uncertain significance
- Cardiovascular phenotype
- Missense
- Variant Prioritization Score for Impact Estimate 0.376
- REVEL 0.28
- CADD 26.10
- PolyPhen-2 0.58
- SIFT 0.00
- ClinVar: Uncertain significance (Cardiovascular phenotype)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 2.2e-05)
- Structural context available