M107T (p.Met107Thr) variant of PKLR (Pyruvate kinase PKLR)
M107T (p.Met107Thr) in PKLR (Pyruvate kinase PKLR) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.82 / 1. The record also includes population frequency data, published literature, and structural context.
M107T (p.Met107Thr) variant details
- p.Met107Thr
- rs2525304199
- ClinGen CA342756264
- ClinVar RCV003562296
- UniProt VAR 004028
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.821
- REVEL 0.95
- CADD 27.30
- PolyPhen-2 0.75
- SIFT 0.04
- ClinVar: Uncertain significance (not provided)
- EBI: Pathogenic (in CNSHA2)
- UniProt: Pathogenic (in CNSHA2)
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Cited in: Mutations in pyruvate kinase. (PMID 8664896)
- Cited in: Hematologically important mutations: red cell pyruvate kinase (2nd update). (PMID 10087985)