K38N (p.Lys38Asn) variant of PICALM (Q13492)
K38N (p.Lys38Asn) in PICALM (Q13492) 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 0.39 / 1. The record also includes population frequency data and structural context.
K38N (p.Lys38Asn) variant details
- p.Lys38Asn
- ExAC rs781418654
- gnomAD rs781418654
- NCI-TCGA Cosmic COSV1007
- cosmic curated COSV10070
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.393
- REVEL 0.27
- CADD 29.20
- PolyPhen-2 0.89
- SIFT 0.00
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available