F51L (p.Phe51Leu) variant of BIN1 (O00499)
F51L (p.Phe51Leu) in BIN1 (O00499) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. The available variant effect predictions contribute to a CATVariant prioritization score of 0.43 / 1. The record also includes population frequency data and structural context.
F51L (p.Phe51Leu) variant details
- p.Phe51Leu
- rs758601442
- NCI-TCGA Cosmic COSV5212
- cosmic curated COSV52120
- ExAC rs758601442
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.432
- REVEL 0.34
- CADD 26.30
- PolyPhen-2 0.99
- SIFT 0.06
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the African/African-American population (allele frequency 3e-05)
- Structural context available