K62N (p.Lys62Asn) variant of HMBS (Porphobilinogen deaminase)
K62N (p.Lys62Asn) in HMBS (Porphobilinogen deaminase) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided; Acute intermittent porphyria. The available variant effect predictions contribute to a CATVariant prioritization score of 0.57 / 1. The record also includes population frequency data, published literature, and structural context.
K62N (p.Lys62Asn) variant details
- p.Lys62Asn
- rs1402435019
- ClinGen CA382889292
- ClinVar RCV001214092
- ClinVar RCV001253215
- Uncertain significance
- not provided; Acute intermittent porphyria
- Missense
- Variant Prioritization Score for Impact Estimate 0.569
- REVEL 0.56
- ESM-1b 1.00
- AlphaMissense 0.55
- CADD 23.00
- PolyPhen-2 0.05
- SIFT 0.14
- ClinVar: Uncertain significance (not provided; Acute intermittent porphyria)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the HGDP:BANTUSOUTHAFRICA population (allele frequency 0.062)
- Structural context available
- Cited in: Acute Intermittent Porphyria. (PMID 20301372)