A8P (p.Ala8Pro) variant of MCCC2 (Q9HCC0)
A8P (p.Ala8Pro) in MCCC2 (Q9HCC0) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.33 / 1. The record also includes population frequency data and structural context.
A8P (p.Ala8Pro) variant details
- p.Ala8Pro
- TOPMed rs1204608472
- gnomAD rs1204608472
- Missense
- Variant Prioritization Score for Impact Estimate 0.329
- REVEL 0.43
- CADD 10.40
- PolyPhen-2 0.00
- SIFT 0.08
- Most common in the HGDP:PATHAN population (allele frequency 0.021)
- Structural context available