A6T (p.Ala6Thr) variant of MMACHC (Q9Y4U1)
A6T (p.Ala6Thr) in MMACHC (Q9Y4U1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.31 / 1. The record also includes population frequency data, published literature, and structural context.
A6T (p.Ala6Thr) variant details
- p.Ala6Thr
- gnomAD 1-45500348-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.312
- REVEL 0.20
- MetaLR 0.70
- MetaSVM 0.13
- CADD 21.80
- PolyPhen-2 0.02
- SIFT 0.30
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available
- Literature evidence available