Q33E (p.Gln33Glu) variant of SHMT2 (P34897)
Q33E (p.Gln33Glu) in SHMT2 (P34897) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. The available variant effect predictions contribute to a CATVariant prioritization score of 0.33 / 1. The record also includes population frequency data and structural context.
Q33E (p.Gln33Glu) variant details
- p.Gln33Glu
- NCI-TCGA Cosmic COSV1001
- NCI-TCGA Cosmic COSV6107
- cosmic curated COSV61073
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.326
- REVEL 0.07
- CADD 15.40
- PolyPhen-2 0.01
- SIFT 1.00
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the Non-Finnish European population (allele frequency 0.00024)
- Structural context available