L37F (p.Leu37Phe) variant of MYLK (Q15746)
L37F (p.Leu37Phe) 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 0.20 / 1. The record also includes population frequency data and structural context.
L37F (p.Leu37Phe) variant details
- p.Leu37Phe
- NCI-TCGA Cosmic COSV6060
- cosmic curated COSV60604
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.204
- REVEL 0.11
- CADD 23.60
- PolyPhen-2 0.90
- SIFT 0.03
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the Non-Finnish European population (allele frequency 3.6e-06)
- Structural context available