L41V (p.Leu41Val) variant of MECOM (Q03112)
L41V (p.Leu41Val) in MECOM (Q03112) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.33 / 1. The record also includes population frequency data.
L41V (p.Leu41Val) variant details
- p.Leu41Val
- TOPMed rs1381796367
- gnomAD rs1381796367
- Missense
- Variant Prioritization Score for Impact Estimate 0.325
- CADD 10.10
- PolyPhen-2 0.00
- SIFT 0.07
- Most common in the African/African-American population (allele frequency 3e-05)