A29T (p.Ala29Thr) variant of MMACHC (Q9Y4U1)
A29T (p.Ala29Thr) in MMACHC (Q9Y4U1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.62 / 1. The record also includes population frequency data, published literature, and structural context.
A29T (p.Ala29Thr) variant details
- p.Ala29Thr
- gnomAD 1-45507359-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.616
- REVEL 0.59
- CADD 24.70
- PolyPhen-2 0.16
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available