A9E (p.Ala9Glu) variant of SHMT2 (P34897)
A9E (p.Ala9Glu) 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 and structural context.
A9E (p.Ala9Glu) variant details
- p.Ala9Glu
- ExAC rs747807742
- gnomAD rs747807742
- Missense
- Variant Prioritization Score for Impact Estimate 0.2
- REVEL 0.19
- CADD 12.40
- PolyPhen-2 0.03
- SIFT 0.32
- Most common in the Ashkenazi Jewish population (allele frequency 0.00086)
- Structural context available