K52N (p.Lys52Asn) variant of SRSF2 (Q01130)
K52N (p.Lys52Asn) in SRSF2 (Q01130) 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 0.30 / 1. The record also includes population frequency data.
K52N (p.Lys52Asn) variant details
- p.Lys52Asn
- NCI-TCGA Cosmic COSV5797
- cosmic curated COSV57975
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.303
- REVEL 0.19
- CADD 22.60
- PolyPhen-2 0.24
- SIFT 0.06
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the East Asian population (allele frequency 2.5e-05)