P18S (p.Pro18Ser) variant of DIP2B (Q9P265)
P18S (p.Pro18Ser) 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 0.20 / 1. The record also includes population frequency data and structural context.
P18S (p.Pro18Ser) variant details
- p.Pro18Ser
- gnomAD rs1326109803
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.201
- REVEL 0.04
- MetaLR 0.05
- MetaSVM -1.04
- CADD 14.70
- PolyPhen-2 0.05
- SIFT 0.14
- ClinVar: Uncertain significance (not specified)
- UniProt: Uncertain significance
- Most common in the East Asian population (allele frequency 0.00015)
- Structural context available