P12H (p.Pro12His) variant of CREBBP (CREB-binding protein)
P12H (p.Pro12His) in CREBBP (CREB-binding protein) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.46 / 1. The record also includes population frequency data and structural context.
P12H (p.Pro12His) variant details
- p.Pro12His
- cosmic curated COSV52134
- Ensembl rs2141616410
- Missense
- Variant Prioritization Score for Impact Estimate 0.458
- REVEL 0.25
- CADD 26.80
- PolyPhen-2 0.80
- SIFT 0.00
- Most common in the African/African-American population (allele frequency 3e-05)
- Structural context available