M87V (p.Met87Val) variant of MCCC1 (Q96RQ3)
M87V (p.Met87Val) in MCCC1 (Q96RQ3) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.57 / 1. The record also includes population frequency data and structural context.
M87V (p.Met87Val) variant details
- p.Met87Val
- TOPMed rs1214601221
- gnomAD rs1214601221
- Missense
- Variant Prioritization Score for Impact Estimate 0.573
- REVEL 0.69
- CADD 23.50
- PolyPhen-2 0.59
- SIFT 0.02
- Most common in the African/African-American population (allele frequency 7.2e-05)
- Structural context available