A110T (p.Ala110Thr) variant of PKLR (Pyruvate kinase PKLR)
A110T (p.Ala110Thr) in PKLR (Pyruvate kinase PKLR) 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 0.65 / 1. The record also includes population frequency data and structural context.
A110T (p.Ala110Thr) variant details
- p.Ala110Thr
- rs1557960823
- Ensembl rs1557960823
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.648
- REVEL 0.59
- CADD 22.80
- PolyPhen-2 0.25
- SIFT 0.13
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the Finnish in Finland (FIN) population (allele frequency 1.9e-05)
- Structural context available