T50I (p.Thr50Ile) variant of MCCC1 (Q96RQ3)
T50I (p.Thr50Ile) in MCCC1 (Q96RQ3) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.63 / 1. The record also includes population frequency data and structural context.
T50I (p.Thr50Ile) variant details
- p.Thr50Ile
- ExAC rs772126862
- gnomAD rs772126862
- Missense
- Variant Prioritization Score for Impact Estimate 0.632
- REVEL 0.56
- CADD 21.60
- PolyPhen-2 0.36
- SIFT 0.06
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available