Q74H (p.Gln74His) variant of MCCC1 (Q96RQ3)
Q74H (p.Gln74His) in MCCC1 (Q96RQ3) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.52 / 1. The record also includes population frequency data and structural context.
Q74H (p.Gln74His) variant details
- p.Gln74His
- Ensembl rs1227361314
- Missense
- Variant Prioritization Score for Impact Estimate 0.515
- REVEL 0.61
- CADD 23.50
- PolyPhen-2 0.81
- SIFT 0.01
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available