P54R (p.Pro54Arg) variant of DIP2B (Q9P265)
P54R (p.Pro54Arg) in DIP2B (Q9P265) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.35 / 1. The record also includes population frequency data, published literature, and structural context.
P54R (p.Pro54Arg) variant details
- p.Pro54Arg
- gnomAD 12-50626036-C-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.349
- REVEL 0.20
- MetaLR 0.19
- MetaSVM -0.73
- CADD 23.90
- PolyPhen-2 0.86
- SIFT 0.02
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available
- Literature evidence available