P11L (p.Pro11Leu) variant of MCCC2 (Q9HCC0)
P11L (p.Pro11Leu) in MCCC2 (Q9HCC0) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided. 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.
P11L (p.Pro11Leu) variant details
- p.Pro11Leu
- rs986973442
- ClinGen CA120016443
- ClinVar RCV000998393
- TOPMed rs986973442
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.288
- REVEL 0.36
- CADD 8.66
- PolyPhen-2 0.00
- SIFT 0.25
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.1e-05)
- Structural context available