S51N (p.Ser51Asn) variant of BTK (Tyrosine-protein kinase BTK)
S51N (p.Ser51Asn) 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 0.43 / 1. The record also includes population frequency data, experimental measurements, and structural context.
S51N (p.Ser51Asn) variant details
- p.Ser51Asn
- NCI-TCGA Cosmic COSV5812
- cosmic curated COSV58124
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.432
- REVEL 0.28
- CADD 19.90
- PolyPhen-2 0.01
- SIFT 0.32
- UniProt: Variant assessed as somatic; moderate impact.
- Population evidence available
- Structural context available
- BTK SH3 domain domainome 1.0: score -0.0395