L17V (p.Leu17Val) variant of PCCB (P05166)
L17V (p.Leu17Val) in PCCB (P05166) is a missense change. Clinical records from EBI and UniProt describe it as benign in the context of in PA-2. The available variant effect predictions contribute to a CATVariant prioritization score of 0.32 / 1. The record also includes population frequency data and structural context.
L17V (p.Leu17Val) variant details
- p.Leu17Val
- 1000Genomes rs200185747
- ESP rs200185747
- ExAC rs200185747
- TOPMed rs200185747
- Benign
- in PA-2
- Missense
- Variant Prioritization Score for Impact Estimate 0.323
- REVEL 0.36
- ESM-1b 0.00
- AlphaMissense 0.06
- CADD 8.60
- PolyPhen-2 0.00
- SIFT 0.70
- EBI: Benign (in PA-2)
- UniProt: Benign (in PA-2)
- Most common in the REMAINING population (allele frequency 3.4e-05)
- Structural context available