K141N (p.Lys141Asn) variant of SF3B1 (Splicing factor 3B subunit 1)
K141N (p.Lys141Asn) in SF3B1 (Splicing factor 3B subunit 1) is a missense change. Clinical records from EBI and UniProt describe it as benign. The available variant effect predictions contribute to a CATVariant prioritization score of 0.32 / 1. The record also includes population frequency data and structural context.
K141N (p.Lys141Asn) variant details
- p.Lys141Asn
- 1000Genomes rs788023
- ESP rs788023
- ExAC rs788023
- TOPMed rs788023
- Benign
- Missense
- Variant Prioritization Score for Impact Estimate 0.318
- REVEL 0.14
- CADD 22.50
- PolyPhen-2 0.02
- SIFT 0.06
- EBI: Benign
- UniProt: Benign
- Population evidence available
- Structural context available