S75R (p.Ser75Arg) variant of MYLK (Q15746)
S75R (p.Ser75Arg) 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 0.11 / 1. The record also includes population frequency data and structural context.
S75R (p.Ser75Arg) variant details
- p.Ser75Arg
- NCI-TCGA Cosmic COSV1006
- cosmic curated COSV10065
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.106
- REVEL 0.14
- CADD 0.01
- PolyPhen-2 0.02
- SIFT 0.31
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available