L23R (p.Leu23Arg) variant of KRAS (GTPase KRas)
L23R (p.Leu23Arg) in KRAS (GTPase KRas) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.73 / 1. The record also includes experimental measurements, published literature, and structural context.
L23R (p.Leu23Arg) variant details
- p.Leu23Arg
- rs730880472
- ClinGen CA296092
- NCI-TCGA Cosmic COSV5553
- cosmic curated COSV55534
- Conflicting interpretations
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.728
- AlphaMissense 0.99
- MetaLR 0.70
- MetaSVM 0.59
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.63
- ClinVar: Conflicting classifications of pathogenicity (not provided)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available
- abundance fitness from abundancePCA of KRAS block1: score -0.0911
- Cited in: Opportunities and challenges associated with clinical diagnostic genome sequencing: a report of the Association for… (PMID 22918138)
- Cited in: American College of Medical Genetics and Genomics technical standards and guidelines: microarray analysis for… (PMID 23619274)