P17T (p.Pro17Thr) variant of MCCC2 (Q9HCC0)
P17T (p.Pro17Thr) in MCCC2 (Q9HCC0) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.21 / 1. The record also includes population frequency data and structural context.
P17T (p.Pro17Thr) variant details
- p.Pro17Thr
- ExAC rs780891559
- TOPMed rs780891559
- gnomAD rs780891559
- Missense
- Variant Prioritization Score for Impact Estimate 0.212
- REVEL 0.23
- CADD 3.75
- PolyPhen-2 0.00
- SIFT 0.29
- Most common in the Latino/Admixed American population (allele frequency 2.8e-05)
- Structural context available