T33N (p.Thr33Asn) variant of MCCC2 (Q9HCC0)
T33N (p.Thr33Asn) in MCCC2 (Q9HCC0) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.49 / 1. The record also includes population frequency data, published literature, and structural context.
T33N (p.Thr33Asn) variant details
- p.Thr33Asn
- gnomAD 5-71587523-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.487
- REVEL 0.41
- CADD 19.10
- PolyPhen-2 0.00
- SIFT 0.06
- Population evidence available
- Structural context available
- Literature evidence available