V145I (p.Val145Ile) variant of C5 (Complement C5)
V145I (p.Val145Ile) in C5 (Complement C5) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as benign/likely benign in the context of not specified; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.40 / 1. The record also includes population frequency data, published literature, and structural context.
V145I (p.Val145Ile) variant details
- p.Val145Ile
- rs17216529
- ClinGen CA5218390
- ClinVar RCV001515954
- ClinVar RCV006457273
- Benign/Likely benign
- not specified; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.402
- REVEL 0.23
- MetaLR 0.00
- MetaSVM -1.09
- CADD 23.00
- PolyPhen-2 0.51
- SIFT 0.15
- ClinVar: Benign/Likely benign (not specified; not provided)
- EBI: Benign (in dbSNP:rs17216529)
- UniProt: Benign (in dbSNP:rs17216529)
- Most common in the 1KG:LWK population (allele frequency 0.39)
- Structural context available
- Literature evidence available