A23T (p.Ala23Thr) variant of SHMT2 (P34897)
A23T (p.Ala23Thr) in SHMT2 (P34897) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.22 / 1. The record also includes population frequency data, published literature, and structural context.
A23T (p.Ala23Thr) variant details
- p.Ala23Thr
- gnomAD 12-57230836-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.224
- REVEL 0.08
- CADD 22.70
- PolyPhen-2 0.00
- SIFT 0.12
- Most common in the REMAINING population (allele frequency 0.0003)
- Structural context available
- Literature evidence available