A31T (p.Ala31Thr) variant of SHMT2 (P34897)
A31T (p.Ala31Thr) in SHMT2 (P34897) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of Inborn genetic diseases. The available variant effect predictions contribute to a CATVariant prioritization score of 0.28 / 1. The record also includes population frequency data and structural context.
A31T (p.Ala31Thr) variant details
- p.Ala31Thr
- 1000Genomes rs202041947
- ESP rs202041947
- ExAC rs202041947
- TOPMed rs202041947
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.283
- REVEL 0.04
- CADD 22.80
- PolyPhen-2 0.00
- SIFT 0.09
- ClinVar: Uncertain significance (Inborn genetic diseases)
- UniProt: Uncertain significance
- Most common in the HGDP:DAUR population (allele frequency 0.056)
- Structural context available