Q74P (p.Gln74Pro) variant of MCCC1 (Q96RQ3)
Q74P (p.Gln74Pro) in MCCC1 (Q96RQ3) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not specified. The available variant effect predictions contribute to a CATVariant prioritization score of 0.71 / 1. The record also includes population frequency data and structural context.
Q74P (p.Gln74Pro) variant details
- p.Gln74Pro
- rs2530509631
- ClinGen CA2580616015
- ClinVar RCV003324207
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.71
- REVEL 0.74
- CADD 23.30
- PolyPhen-2 0.63
- SIFT 0.01
- ClinVar: Uncertain significance (not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available