W2G (p.Trp2Gly) variant of MCCC2 (Q9HCC0)
W2G (p.Trp2Gly) in MCCC2 (Q9HCC0) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.53 / 1. The record also includes population frequency data, published literature, and structural context.
W2G (p.Trp2Gly) variant details
- p.Trp2Gly
- gnomAD 5-71587429-T-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.534
- REVEL 0.60
- CADD 23.70
- PolyPhen-2 0.05
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 2.8e-06)
- Structural context available
- Literature evidence available