N53T (p.Asn53Thr) variant of PICALM (Q13492)
N53T (p.Asn53Thr) in PICALM (Q13492) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of not specified. The available variant effect predictions contribute to a CATVariant prioritization score of 0.49 / 1. The record also includes population frequency data and structural context.
N53T (p.Asn53Thr) variant details
- p.Asn53Thr
- Ensembl rs1565481046
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.494
- REVEL 0.38
- CADD 26.70
- PolyPhen-2 0.89
- SIFT 0.00
- ClinVar: Uncertain significance (not specified)
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 5.4e-06)
- Structural context available