K42Q (p.Lys42Gln) variant of MYH11 (Myosin-11)
K42Q (p.Lys42Gln) in MYH11 (Myosin-11) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.54 / 1. The record also includes population frequency data and structural context.
K42Q (p.Lys42Gln) variant details
- p.Lys42Gln
- gnomAD rs1303933614
- Missense
- Variant Prioritization Score for Impact Estimate 0.538
- REVEL 0.48
- CADD 23.70
- PolyPhen-2 0.43
- SIFT 0.04
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available