M65T (p.Met65Thr) variant of MCCC1 (Q96RQ3)
M65T (p.Met65Thr) in MCCC1 (Q96RQ3) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.56 / 1. The record also includes population frequency data and structural context.
M65T (p.Met65Thr) variant details
- p.Met65Thr
- ExAC rs781578883
- TOPMed rs781578883
- gnomAD rs781578883
- Missense
- Variant Prioritization Score for Impact Estimate 0.559
- REVEL 0.74
- CADD 23.40
- PolyPhen-2 0.10
- SIFT 0.03
- Most common in the Non-Finnish European population (allele frequency 2.9e-05)
- Structural context available