V38L (p.Val38Leu) variant of MRE11 (P49959)
V38L (p.Val38Leu) in MRE11 (P49959) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Ataxia-telangiectasia-like disorder. The available variant effect predictions contribute to a CATVariant prioritization score of 0.29 / 1. The record also includes population frequency data, published literature, and structural context.
V38L (p.Val38Leu) variant details
- p.Val38Leu
- rs786202896
- ClinGen CA382380718
- ClinVar RCV001364197
- TOPMed rs786202896
- Uncertain significance
- Ataxia-telangiectasia-like disorder
- Missense
- Variant Prioritization Score for Impact Estimate 0.294
- REVEL 0.15
- CADD 19.20
- PolyPhen-2 0.02
- SIFT 0.28
- ClinVar: Uncertain significance (Ataxia-telangiectasia-like disorder)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 8.1e-06)
- Structural context available
- Cited in: EFNS guidelines on the molecular diagnosis of ataxias and spastic paraplegias. (PMID 20050888)
- Cited in: A practice guideline from the American College of Medical Genetics and Genomics and the National Society of Genetic… (PMID 25394175)