M87L (p.Met87Leu) variant of MCCC1 (Q96RQ3)
M87L (p.Met87Leu) in MCCC1 (Q96RQ3) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.35 / 1. The record also includes population frequency data and structural context.
M87L (p.Met87Leu) variant details
- p.Met87Leu
- TOPMed rs1214601221
- gnomAD rs1214601221
- Missense
- Variant Prioritization Score for Impact Estimate 0.35
- REVEL 0.34
- CADD 17.20
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available