A91V (p.Ala91Val) variant of CREBBP (CREB-binding protein)
A91V (p.Ala91Val) in CREBBP (CREB-binding protein) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.48 / 1. The record also includes population frequency data and structural context.
A91V (p.Ala91Val) variant details
- p.Ala91Val
- gnomAD rs1395157664
- Missense
- Variant Prioritization Score for Impact Estimate 0.477
- REVEL 0.28
- CADD 22.40
- PolyPhen-2 0.43
- SIFT 0.15
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available