V37F (p.Val37Phe) variant of ABCC6 (O95255)
V37F (p.Val37Phe) in ABCC6 (O95255) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely benign in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.18 / 1. The record also includes population frequency data and structural context.
V37F (p.Val37Phe) variant details
- p.Val37Phe
- rs557779326
- ClinGen CA7926719
- ClinVar RCV000942182
- 1000Genomes rs557779326
- Likely benign
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.184
- REVEL 0.11
- CADD 17.60
- PolyPhen-2 0.41
- SIFT 0.04
- ClinVar: Likely benign (not provided)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the HGDP:JAPANESE population (allele frequency 0.018)
- Structural context available