Q33K (p.Gln33Lys) variant of PCDH19 (Protocadherin-19)
Q33K (p.Gln33Lys) in PCDH19 (Protocadherin-19) 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 0.30 / 1. The record also includes population frequency data and structural context.
Q33K (p.Gln33Lys) variant details
- p.Gln33Lys
- rs1928479952
- ClinGen CA414011383
- ClinVar RCV003228488
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.296
- REVEL 0.12
- CADD 17.20
- PolyPhen-2 0.17
- SIFT 0.91
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available