S87N (p.Ser87Asn) variant of PKLR (Pyruvate kinase PKLR)
S87N (p.Ser87Asn) in PKLR (Pyruvate kinase PKLR) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.44 / 1. The record also includes population frequency data and structural context.
S87N (p.Ser87Asn) variant details
- p.Ser87Asn
- rs2525337015
- ClinGen CA342758148
- ClinVar RCV003142681
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.444
- REVEL 0.39
- CADD 15.70
- PolyPhen-2 0.00
- SIFT 0.71
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available