V76M (p.Val76Met) variant of MCCC1 (Q96RQ3)
V76M (p.Val76Met) in MCCC1 (Q96RQ3) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.76 / 1. The record also includes population frequency data and structural context.
V76M (p.Val76Met) variant details
- p.Val76Met
- gnomAD rs1234746635
- Missense
- Variant Prioritization Score for Impact Estimate 0.758
- REVEL 0.82
- CADD 25.00
- PolyPhen-2 0.99
- SIFT 0.00
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available