R21P (p.Arg21Pro) variant of MCCC1 (Q96RQ3)
R21P (p.Arg21Pro) in MCCC1 (Q96RQ3) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.55 / 1. The record also includes population frequency data and structural context.
R21P (p.Arg21Pro) variant details
- p.Arg21Pro
- gnomAD rs1204217115
- Missense
- Variant Prioritization Score for Impact Estimate 0.552
- REVEL 0.53
- CADD 25.40
- PolyPhen-2 0.42
- SIFT 0.03
- Most common in the South Asian population (allele frequency 2.4e-05)
- Structural context available