A32P (p.Ala32Pro) variant of SHMT2 (P34897)
A32P (p.Ala32Pro) in SHMT2 (P34897) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.36 / 1. The record also includes population frequency data, published literature, and structural context.
A32P (p.Ala32Pro) variant details
- p.Ala32Pro
- gnomAD 12-57230863-G-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.36
- REVEL 0.15
- CADD 23.70
- PolyPhen-2 0.35
- SIFT 0.08
- Most common in the REMAINING population (allele frequency 0.00013)
- Structural context available
- Literature evidence available