P8A (p.Pro8Ala) variant of DIP2B (Q9P265)
P8A (p.Pro8Ala) in DIP2B (Q9P265) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of not specified. The available variant effect predictions contribute to a CATVariant prioritization score of 0.27 / 1. The record also includes population frequency data and structural context.
P8A (p.Pro8Ala) variant details
- p.Pro8Ala
- 1000Genomes rs527464151
- TOPMed rs527464151
- gnomAD rs527464151
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.266
- REVEL 0.10
- MetaLR 0.02
- MetaSVM -0.97
- CADD 19.80
- PolyPhen-2 0.00
- SIFT 1.00
- ClinVar: Uncertain significance (not specified)
- UniProt: Uncertain significance
- Most common in the 1KG:IBS population (allele frequency 0.0048)
- Structural context available