F13I (p.Phe13Ile) variant of MRE11 (P49959)
F13I (p.Phe13Ile) in MRE11 (P49959) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as benign/likely benign in the context of Ataxia-telangiectasia-like disorder; not specified; Hereditary cancer-predisposi. The available variant effect predictions contribute to a CATVariant prioritization score of 0.59 / 1. The record also includes population frequency data, published literature, and structural context.
F13I (p.Phe13Ile) variant details
- p.Phe13Ile
- rs149101834
- ClinGen CA333197
- ClinVar RCV000129638
- ClinVar RCV000524531
- Benign/Likely benign
- Ataxia-telangiectasia-like disorder; not specified; Hereditary cancer-predisposi
- Missense
- Variant Prioritization Score for Impact Estimate 0.588
- REVEL 0.58
- CADD 23.10
- PolyPhen-2 0.23
- SIFT 0.20
- ClinVar: Benign/Likely benign (Ataxia-telangiectasia-like disorder; not specified; Hereditary c)
- EBI: Benign
- UniProt: Benign
- Most common in the HGDP:MANDENKA population (allele frequency 0.025)
- Structural context available
- Cited in: A practice guideline from the American College of Medical Genetics and Genomics and the National Society of Genetic… (PMID 25394175)