A32T (p.Ala32Thr) variant of SHMT2 (P34897)
A32T (p.Ala32Thr) in SHMT2 (P34897) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.34 / 1. The record also includes population frequency data, published literature, and structural context.
A32T (p.Ala32Thr) variant details
- p.Ala32Thr
- gnomAD 12-57230863-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.339
- REVEL 0.13
- CADD 23.40
- PolyPhen-2 0.08
- SIFT 0.07
- Most common in the Middle Eastern population (allele frequency 0.001)
- Structural context available
- Literature evidence available