C19W (p.Cys19Trp) variant of MMADHC (Q9H3L0)
C19W (p.Cys19Trp) in MMADHC (Q9H3L0) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.26 / 1. The record also includes population frequency data and structural context.
C19W (p.Cys19Trp) variant details
- p.Cys19Trp
- TOPMed rs905523537
- Missense
- Variant Prioritization Score for Impact Estimate 0.26
- REVEL 0.24
- CADD 21.30
- PolyPhen-2 0.12
- SIFT 0.16
- Most common in the Latino/Admixed American population (allele frequency 2.2e-05)
- Structural context available