V49A (p.Val49Ala) variant of BLM (RecQ-like DNA helicase BLM)
V49A (p.Val49Ala) 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 Hereditary cancer-predisposing syndrome; Bloom syndrome; not specified. The available variant effect predictions contribute to a CATVariant prioritization score of 0.16 / 1. The record also includes population frequency data, published literature, and structural context.
V49A (p.Val49Ala) variant details
- p.Val49Ala
- rs1895601341
- ClinGen CA393839464
- ClinVar RCV001243845
- ClinVar RCV001819945
- Uncertain significance
- Hereditary cancer-predisposing syndrome; Bloom syndrome; not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.158
- REVEL 0.03
- CADD 9.14
- PolyPhen-2 0.00
- SIFT 0.31
- ClinVar: Uncertain significance (Hereditary cancer-predisposing syndrome; Bloom syndrome; not spe)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- 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)