W30C (p.Trp30Cys) variant of MMACHC (Q9Y4U1)
W30C (p.Trp30Cys) in MMACHC (Q9Y4U1) 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, published literature, and structural context.
W30C (p.Trp30Cys) variant details
- p.Trp30Cys
- gnomAD 1-45507364-G-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.891
- REVEL 0.93
- CADD 32.00
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available