S48P (p.Ser48Pro) variant of HLA-B (P01889)
S48P (p.Ser48Pro) in HLA-B (P01889) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.23 / 1. The record also includes population frequency data and structural context.
S48P (p.Ser48Pro) variant details
- p.Ser48Pro
- 1000Genomes rs713031
- ESP rs713031
- ExAC rs713031
- gnomAD rs713031
- Missense
- Variant Prioritization Score for Impact Estimate 0.225
- REVEL 0.27
- CADD 14.00
- PolyPhen-2 0.22
- SIFT 0.00
- Most common in the REMAINING population (allele frequency 0.0019)
- Structural context available