A6T (p.Ala6Thr) variant of MCCC1 (Q96RQ3)
A6T (p.Ala6Thr) in MCCC1 (Q96RQ3) is a missense change. 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.
A6T (p.Ala6Thr) variant details
- p.Ala6Thr
- TOPMed rs1157661208
- gnomAD rs1157661208
- Missense
- Variant Prioritization Score for Impact Estimate 0.293
- REVEL 0.20
- CADD 17.70
- PolyPhen-2 0.03
- SIFT 0.02
- Most common in the African/African-American population (allele frequency 7.2e-05)
- Structural context available