A32D (p.Ala32Asp) variant of SHMT2 (P34897)
A32D (p.Ala32Asp) in SHMT2 (P34897) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.35 / 1. The record also includes population frequency data and structural context.
A32D (p.Ala32Asp) variant details
- p.Ala32Asp
- Ensembl rs1565769175
- Missense
- Variant Prioritization Score for Impact Estimate 0.346
- REVEL 0.15
- CADD 22.30
- PolyPhen-2 0.11
- SIFT 0.08
- Most common in the Ashkenazi Jewish population (allele frequency 0.00086)
- Structural context available