P75A (p.Pro75Ala) variant of BTK (Tyrosine-protein kinase BTK)
P75A (p.Pro75Ala) in BTK (Tyrosine-protein kinase BTK) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. The available variant effect predictions contribute to a CATVariant prioritization score of 0.47 / 1. The record also includes structural context.
P75A (p.Pro75Ala) variant details
- p.Pro75Ala
- rs930891306
- NCI-TCGA Cosmic COSV5811
- cosmic curated COSV58118
- NCI-TCGA Cosmic COSV5812
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.474
- AlphaMissense 0.06
- MetaLR 0.60
- MetaSVM -0.10
- PolyPhen-2 0.01
- SIFT 0.25
- MutPred 0.33
- UniProt: Variant assessed as somatic; moderate impact.
- Structural context available