M112I (p.Met112Ile) variant of PKLR (Pyruvate kinase PKLR)
M112I (p.Met112Ile) 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 0.93 / 1. The record also includes structural context.
M112I (p.Met112Ile) variant details
- p.Met112Ile
- rs1553230922
- NCI-TCGA Cosmic COSV6136
- Ensembl rs1553230922
- cosmic curated COSV61360
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.929
- AlphaMissense 0.77
- MetaLR 0.99
- MetaSVM 0.96
- PolyPhen-2 1.00
- SIFT 0.01
- MutPred 0.81
- UniProt: Variant assessed as somatic; moderate impact.
- Structural context available