R21S (p.Arg21Ser) variant of MCCC1 (Q96RQ3)
R21S (p.Arg21Ser) in MCCC1 (Q96RQ3) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.47 / 1. The record also includes population frequency data and structural context.
R21S (p.Arg21Ser) variant details
- p.Arg21Ser
- ExAC rs766657375
- gnomAD rs766657375
- Missense
- Variant Prioritization Score for Impact Estimate 0.471
- REVEL 0.51
- CADD 24.60
- PolyPhen-2 0.11
- SIFT 0.03
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available