P11Q (p.Pro11Gln) variant of MCCC2 (Q9HCC0)
P11Q (p.Pro11Gln) in MCCC2 (Q9HCC0) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.27 / 1. The record also includes population frequency data and structural context.
P11Q (p.Pro11Gln) variant details
- p.Pro11Gln
- TOPMed rs986973442
- gnomAD rs986973442
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.269
- REVEL 0.34
- CADD 6.52
- PolyPhen-2 0.00
- SIFT 0.38
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available