G58A (p.Gly58Ala) variant of MCCC1 (Q96RQ3)
G58A (p.Gly58Ala) in MCCC1 (Q96RQ3) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.89 / 1. The record also includes population frequency data and structural context.
G58A (p.Gly58Ala) variant details
- p.Gly58Ala
- gnomAD rs1560281232
- Missense
- Variant Prioritization Score for Impact Estimate 0.891
- REVEL 0.97
- CADD 26.20
- PolyPhen-2 0.99
- SIFT 0.02
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available