Q23H (p.Gln23His) variant of PCCA (P05165)
Q23H (p.Gln23His) in PCCA (P05165) is a missense change. Clinical records from EBI and UniProt describe it as likely benign. The available variant effect predictions contribute to a CATVariant prioritization score of 0.23 / 1. The record also includes population frequency data and structural context.
Q23H (p.Gln23His) variant details
- p.Gln23His
- Ensembl rs1593997093
- Likely benign
- Missense
- Variant Prioritization Score for Impact Estimate 0.234
- REVEL 0.20
- ESM-1b 0.00
- AlphaMissense 0.14
- CADD 20.90
- PolyPhen-2 0.14
- SIFT 0.01
- EBI: Likely benign
- UniProt: Likely benign
- Population evidence available
- Structural context available