G38S (p.Gly38Ser) variant of MCCC2 (Q9HCC0)
G38S (p.Gly38Ser) in MCCC2 (Q9HCC0) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.17 / 1. The record also includes population frequency data and structural context.
G38S (p.Gly38Ser) variant details
- p.Gly38Ser
- gnomAD rs1165933854
- Missense
- Variant Prioritization Score for Impact Estimate 0.172
- REVEL 0.18
- CADD 11.90
- PolyPhen-2 0.00
- SIFT 0.88
- Most common in the South Asian population (allele frequency 1.3e-05)
- Structural context available