L99S (p.Leu99Ser) variant of POGZ (Q7Z3K3)
L99S (p.Leu99Ser) in POGZ (Q7Z3K3) 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 0.36 / 1. The record also includes population frequency data and structural context.
L99S (p.Leu99Ser) variant details
- p.Leu99Ser
- rs1658557379
- ClinGen CA341982760
- ClinVar RCV001806888
- Ensembl rs1658557379
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.36
- REVEL 0.25
- ESM-1b 0.00
- AlphaMissense 0.15
- CADD 24.10
- PolyPhen-2 0.55
- SIFT 0.06
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the South Asian population (allele frequency 1.3e-05)
- Structural context available