A8T (p.Ala8Thr) variant of MCCC2 (Q9HCC0)
A8T (p.Ala8Thr) in MCCC2 (Q9HCC0) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.24 / 1. The record also includes population frequency data and structural context.
A8T (p.Ala8Thr) variant details
- p.Ala8Thr
- cosmic curated COSV10811
- TOPMed rs1204608472
- gnomAD rs1204608472
- Missense
- Variant Prioritization Score for Impact Estimate 0.241
- REVEL 0.28
- CADD 7.91
- PolyPhen-2 0.00
- SIFT 0.44
- Most common in the Latino/Admixed American population (allele frequency 6.5e-05)
- Structural context available