A66V (p.Ala66Val) variant of MECOM (Q03112)
A66V (p.Ala66Val) in MECOM (Q03112) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.36 / 1. The record also includes population frequency data.
A66V (p.Ala66Val) variant details
- p.Ala66Val
- cosmic curated COSV10974
- TOPMed rs929448789
- gnomAD rs929448789
- Missense
- Variant Prioritization Score for Impact Estimate 0.364
- CADD 22.80
- PolyPhen-2 0.01
- SIFT 0.03
- Most common in the REMAINING population (allele frequency 5e-05)