N173K (p.Asn173Lys) variant of PICALM (Q13492)
N173K (p.Asn173Lys) 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 0.27 / 1. The record also includes population frequency data and structural context.
N173K (p.Asn173Lys) variant details
- p.Asn173Lys
- NCI-TCGA TCGA novel
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.272
- REVEL 0.14
- CADD 22.20
- PolyPhen-2 0.25
- SIFT 0.07
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the Ashkenazi Jewish population (allele frequency 3.9e-05)
- Structural context available