R139L (p.Arg139Leu) variant of BIN1 (O00499)
R139L (p.Arg139Leu) in BIN1 (O00499) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.55 / 1. The record also includes population frequency data and structural context.
R139L (p.Arg139Leu) variant details
- p.Arg139Leu
- rs755355125
- NCI-TCGA Cosmic COSV5211
- cosmic curated COSV52116
- ExAC rs755355125
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.549
- REVEL 0.40
- CADD 25.00
- PolyPhen-2 0.17
- SIFT 0.00
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available