P39L (p.Pro39Leu) variant of MYH11 (Myosin-11)
P39L (p.Pro39Leu) in MYH11 (Myosin-11) 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 0.70 / 1. The record also includes population frequency data and structural context.
P39L (p.Pro39Leu) variant details
- p.Pro39Leu
- NCI-TCGA Cosmic COSV5555
- cosmic curated COSV55554
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.698
- REVEL 0.63
- CADD 27.80
- PolyPhen-2 0.98
- SIFT 0.00
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available