A68T (p.Ala68Thr) variant of MCCC1 (Q96RQ3)
A68T (p.Ala68Thr) 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.
A68T (p.Ala68Thr) variant details
- p.Ala68Thr
- gnomAD rs1718434637
- Missense
- Variant Prioritization Score for Impact Estimate 0.763
- REVEL 0.83
- CADD 25.20
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available