P23S (p.Pro23Ser) variant of MCCC1 (Q96RQ3)
P23S (p.Pro23Ser) in MCCC1 (Q96RQ3) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.29 / 1. The record also includes population frequency data and structural context.
P23S (p.Pro23Ser) variant details
- p.Pro23Ser
- TOPMed rs1718985567
- Missense
- Variant Prioritization Score for Impact Estimate 0.289
- REVEL 0.26
- CADD 20.50
- PolyPhen-2 0.00
- SIFT 0.16
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available