T59A (p.Thr59Ala) variant of BIN1 (O00499)
T59A (p.Thr59Ala) in BIN1 (O00499) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.27 / 1. The record also includes population frequency data and structural context.
T59A (p.Thr59Ala) variant details
- p.Thr59Ala
- cosmic curated COSV52117
- Ensembl rs1573650224
- Missense
- Variant Prioritization Score for Impact Estimate 0.267
- REVEL 0.09
- CADD 23.60
- PolyPhen-2 0.36
- SIFT 0.03
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available