M814K (p.Met814Lys) variant of BLM (RecQ-like DNA helicase BLM)
M814K (p.Met814Lys) in BLM (RecQ-like DNA helicase BLM) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as no classification for the single variant in the context of Bloom syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.34 / 1. The record also includes published literature and structural context.
M814K (p.Met814Lys) variant details
- p.Met814Lys
- rs1596238678
- ClinVar RCV001293727
- Ensembl rs1596238678
- no classification for the single variant
- Bloom syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.341
- AlphaMissense 0.98
- MetaLR 0.06
- MetaSVM -1.14
- PolyPhen-2 0.94
- SIFT 0.00
- EVE 0.38
- ClinVar: no classification for the single variant
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: Carrier screening in individuals of Ashkenazi Jewish descent. (PMID 18197057)
- Cited in: ACOG Committee Opinion No. 442: Preconception and prenatal carrier screening for genetic diseases in individuals of… (PMID 19888064)