L42F (p.Leu42Phe) variant of MYLK (Q15746)
L42F (p.Leu42Phe) in MYLK (Q15746) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.50 / 1. The record also includes population frequency data and structural context.
L42F (p.Leu42Phe) variant details
- p.Leu42Phe
- rs756715403
- ClinGen CA066851
- cosmic curated COSV10525
- ClinVar RCV003736511
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.501
- REVEL 0.29
- CADD 26.30
- PolyPhen-2 0.90
- SIFT 0.01
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 8.1e-06)
- Structural context available