G52S (p.Gly52Ser) variant of CREBBP (CREB-binding protein)
G52S (p.Gly52Ser) in CREBBP (CREB-binding protein) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.41 / 1. The record also includes population frequency data and structural context.
G52S (p.Gly52Ser) variant details
- p.Gly52Ser
- gnomAD rs1323366315
- Missense
- Variant Prioritization Score for Impact Estimate 0.407
- REVEL 0.19
- CADD 14.20
- PolyPhen-2 0.09
- SIFT 0.30
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available