S65C (p.Ser65Cys) variant of CREBBP (CREB-binding protein)
S65C (p.Ser65Cys) in CREBBP (CREB-binding protein) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.68 / 1. The record also includes population frequency data and structural context.
S65C (p.Ser65Cys) variant details
- p.Ser65Cys
- Ensembl rs1364163978
- Missense
- Variant Prioritization Score for Impact Estimate 0.68
- REVEL 0.60
- CADD 27.50
- PolyPhen-2 0.96
- SIFT 0.00
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available