T43P (p.Thr43Pro) variant of MCCC1 (Q96RQ3)
T43P (p.Thr43Pro) in MCCC1 (Q96RQ3) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.45 / 1. The record also includes population frequency data and structural context.
T43P (p.Thr43Pro) variant details
- p.Thr43Pro
- ExAC rs201427541
- gnomAD rs201427541
- Missense
- Variant Prioritization Score for Impact Estimate 0.447
- REVEL 0.42
- CADD 17.40
- PolyPhen-2 0.10
- SIFT 0.01
- Most common in the Finnish in Finland (FIN) population (allele frequency 0.0012)
- Structural context available