A26V (p.Ala26Val) variant of SHMT2 (P34897)
A26V (p.Ala26Val) in SHMT2 (P34897) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.20 / 1. The record also includes population frequency data, published literature, and structural context.
A26V (p.Ala26Val) variant details
- p.Ala26Val
- gnomAD 12-57230846-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.202
- REVEL 0.05
- CADD 21.70
- PolyPhen-2 0.01
- SIFT 0.09
- Most common in the Middle Eastern population (allele frequency 0.001)
- Structural context available
- Literature evidence available