F25L (p.Phe25Leu) variant of MRE11 (P49959)
F25L (p.Phe25Leu) 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 1; Ataxia-telangiectasia-like disorder; Here. The available variant effect predictions contribute to a CATVariant prioritization score of 0.65 / 1. The record also includes population frequency data, published literature, and structural context.
F25L (p.Phe25Leu) variant details
- p.Phe25Leu
- rs145218439
- ClinGen CA226544661
- cosmic curated COSV10590
- ClinVar RCV000567785
- Uncertain significance
- Ataxia-telangiectasia-like disorder 1; Ataxia-telangiectasia-like disorder; Here
- Missense
- Variant Prioritization Score for Impact Estimate 0.65
- REVEL 0.69
- CADD 24.50
- PolyPhen-2 0.25
- SIFT 0.00
- ClinVar: Uncertain significance (Ataxia-telangiectasia-like disorder 1; Ataxia-telangiectasia-lik)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 7.2e-05)
- 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)