S30T (p.Ser30Thr) variant of MCCC2 (Q9HCC0)
S30T (p.Ser30Thr) in MCCC2 (Q9HCC0) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.15 / 1. The record also includes population frequency data, published literature, and structural context.
S30T (p.Ser30Thr) variant details
- p.Ser30Thr
- gnomAD 5-71587513-T-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.146
- REVEL 0.17
- CADD 5.17
- PolyPhen-2 0.00
- SIFT 1.00
- Population evidence available
- Structural context available
- Literature evidence available