R18G (p.Arg18Gly) variant of MCCC1 (Q96RQ3)
R18G (p.Arg18Gly) in MCCC1 (Q96RQ3) 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 and structural context.
R18G (p.Arg18Gly) variant details
- p.Arg18Gly
- gnomAD rs1443414652
- Missense
- Variant Prioritization Score for Impact Estimate 0.531
- REVEL 0.48
- CADD 23.30
- PolyPhen-2 0.10
- SIFT 0.01
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available