S90R (p.Ser90Arg) variant of CREBBP (CREB-binding protein)
S90R (p.Ser90Arg) in CREBBP (CREB-binding protein) is a missense change. Clinical records from EBI and UniProt describe it as benign. The available variant effect predictions contribute to a CATVariant prioritization score of 0.26 / 1. The record also includes population frequency data and structural context.
S90R (p.Ser90Arg) variant details
- p.Ser90Arg
- Ensembl rs2141495735
- Benign
- Missense
- Variant Prioritization Score for Impact Estimate 0.255
- REVEL 0.33
- CADD 14.00
- PolyPhen-2 0.00
- SIFT 0.08
- EBI: Benign
- UniProt: Benign
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available