P5S (p.Pro5Ser) variant of CD79A (P11912)
P5S (p.Pro5Ser) in CD79A (P11912) is a missense change. Clinical records from ClinVar, EBI, 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 0.13 / 1. The record also includes population frequency data and structural context.
P5S (p.Pro5Ser) variant details
- p.Pro5Ser
- rs146480366
- ClinGen CA9465482
- cosmic curated COSV10454
- ClinVar RCV004218636
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.13
- REVEL 0.10
- CADD 4.77
- PolyPhen-2 0.00
- SIFT 0.19
- ClinVar: Uncertain significance (not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 9.6e-05)
- Structural context available