T42A (p.Thr42Ala) variant of MCCC1 (Q96RQ3)
T42A (p.Thr42Ala) in MCCC1 (Q96RQ3) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.18 / 1. The record also includes population frequency data and structural context.
T42A (p.Thr42Ala) variant details
- p.Thr42Ala
- ExAC rs773887269
- gnomAD rs773887269
- Missense
- Variant Prioritization Score for Impact Estimate 0.182
- REVEL 0.26
- CADD 0.11
- PolyPhen-2 0.00
- SIFT 1.00
- Most common in the South Asian population (allele frequency 8.1e-05)
- Structural context available