T43A (p.Thr43Ala) variant of MCCC1 (Q96RQ3)
T43A (p.Thr43Ala) in MCCC1 (Q96RQ3) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.30 / 1. The record also includes population frequency data and structural context.
T43A (p.Thr43Ala) variant details
- p.Thr43Ala
- ExAC rs201427541
- gnomAD rs201427541
- Missense
- Variant Prioritization Score for Impact Estimate 0.299
- REVEL 0.19
- CADD 11.90
- PolyPhen-2 0.00
- SIFT 0.19
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available