C19G (p.Cys19Gly) variant of MMADHC (Q9H3L0)
C19G (p.Cys19Gly) in MMADHC (Q9H3L0) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.27 / 1. The record also includes population frequency data and structural context.
C19G (p.Cys19Gly) variant details
- p.Cys19Gly
- cosmic curated COSV10440
- Missense
- Variant Prioritization Score for Impact Estimate 0.266
- REVEL 0.15
- CADD 19.70
- PolyPhen-2 0.01
- SIFT 0.33
- Most common in the Non-Finnish European population (allele frequency 2.7e-06)
- Structural context available