V102G (p.Val102Gly) variant of MECOM (Q03112)
V102G (p.Val102Gly) in MECOM (Q03112) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.27 / 1. The record also includes population frequency data.
V102G (p.Val102Gly) variant details
- p.Val102Gly
- Ensembl rs2108276975
- Missense
- Variant Prioritization Score for Impact Estimate 0.271
- CADD 15.20
- PolyPhen-2 0.03
- SIFT 0.15
- Most common in the South Asian population (allele frequency 1.2e-05)