R18P (p.Arg18Pro) variant of MCCC1 (Q96RQ3)
R18P (p.Arg18Pro) in MCCC1 (Q96RQ3) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.59 / 1. The record also includes population frequency data and structural context.
R18P (p.Arg18Pro) variant details
- p.Arg18Pro
- 1000Genomes rs539353622
- ExAC rs539353622
- gnomAD rs539353622
- Missense
- Variant Prioritization Score for Impact Estimate 0.589
- REVEL 0.52
- CADD 19.50
- PolyPhen-2 0.00
- SIFT 0.05
- Most common in the African/African-American population (allele frequency 6e-05)
- Structural context available