N62K (p.Asn62Lys) variant of BLM (RecQ-like DNA helicase BLM)
N62K (p.Asn62Lys) in BLM (RecQ-like DNA helicase BLM) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Bloom syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.09 / 1. The record also includes population frequency data, published literature, and structural context.
N62K (p.Asn62Lys) variant details
- p.Asn62Lys
- rs146735953
- ClinGen CA393839629
- ClinVar RCV001367349
- ESP rs146735953
- Uncertain significance
- Bloom syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.0866
- REVEL 0.03
- CADD 15.50
- PolyPhen-2 0.01
- SIFT 0.01
- ClinVar: Uncertain significance (Bloom syndrome)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the Non-Finnish European population (allele frequency 3.6e-06)
- 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)