A87T (p.Ala87Thr) variant of SHMT2 (P34897)
A87T (p.Ala87Thr) 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 0.59 / 1. The record also includes population frequency data and structural context.
A87T (p.Ala87Thr) variant details
- p.Ala87Thr
- rs373156028
- cosmic curated COSV61073
- ESP rs373156028
- ExAC rs373156028
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.59
- REVEL 0.42
- CADD 31.00
- PolyPhen-2 0.91
- SIFT 0.02
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the South Asian population (allele frequency 0.00041)
- Structural context available