A2T (p.Ala2Thr) variant of MCCC1 (Q96RQ3)
A2T (p.Ala2Thr) in MCCC1 (Q96RQ3) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.27 / 1. The record also includes population frequency data and structural context.
A2T (p.Ala2Thr) variant details
- p.Ala2Thr
- gnomAD rs1460507493
- Missense
- Variant Prioritization Score for Impact Estimate 0.268
- REVEL 0.24
- CADD 16.30
- PolyPhen-2 0.05
- SIFT 0.14
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available