L27P (p.Leu27Pro) variant of MCCC1 (Q96RQ3)
L27P (p.Leu27Pro) in MCCC1 (Q96RQ3) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.60 / 1. The record also includes population frequency data and structural context.
L27P (p.Leu27Pro) variant details
- p.Leu27Pro
- TOPMed rs1297847007
- gnomAD rs1297847007
- Missense
- Variant Prioritization Score for Impact Estimate 0.598
- REVEL 0.58
- CADD 23.40
- PolyPhen-2 0.02
- SIFT 0.02
- Most common in the Non-Finnish European population (allele frequency 1.9e-05)
- Structural context available