Y90C (p.Tyr90Cys) variant of BIN1 (O00499)
Y90C (p.Tyr90Cys) 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 0.61 / 1. The record also includes population frequency data and structural context.
Y90C (p.Tyr90Cys) variant details
- p.Tyr90Cys
- rs1391982523
- NCI-TCGA Cosmic COSV9938
- cosmic curated COSV99387
- gnomAD rs1391982523
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.614
- REVEL 0.66
- CADD 27.00
- PolyPhen-2 0.98
- SIFT 0.00
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available