M149K (p.Met149Lys) variant of CHM (P24386)
M149K (p.Met149Lys) in CHM (P24386) is a missense change. 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.
M149K (p.Met149Lys) variant details
- p.Met149Lys
- TOPMed rs1930434759
- Missense
- Variant Prioritization Score for Impact Estimate 0.11
- REVEL 0.08
- MetaLR 0.22
- MetaSVM -0.73
- CADD 0.01
- PolyPhen-2 0.00
- SIFT 0.89
- Most common in the Latino/Admixed American population (allele frequency 8.5e-05)
- Structural context available