P80S (p.Pro80Ser) variant of BTK (Tyrosine-protein kinase BTK)
P80S (p.Pro80Ser) in BTK (Tyrosine-protein kinase BTK) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.33 / 1. The record also includes population frequency data and structural context.
P80S (p.Pro80Ser) variant details
- p.Pro80Ser
- cosmic curated COSV58118
- ExAC rs782406513
- gnomAD rs782406513
- Missense
- Variant Prioritization Score for Impact Estimate 0.328
- REVEL 0.20
- CADD 23.10
- PolyPhen-2 0.01
- SIFT 0.06
- Most common in the Finnish in Finland (FIN) population (allele frequency 2.5e-05)
- Structural context available