S66F (p.Ser66Phe) variant of ABCC6 (O95255)
S66F (p.Ser66Phe) in ABCC6 (O95255) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.60 / 1. The record also includes population frequency data and structural context.
S66F (p.Ser66Phe) variant details
- p.Ser66Phe
- cosmic curated COSV52743
- ExAC rs756021073
- gnomAD rs756021073
- Missense
- Variant Prioritization Score for Impact Estimate 0.598
- REVEL 0.46
- CADD 27.10
- PolyPhen-2 0.99
- SIFT 0.00
- Most common in the South Asian population (allele frequency 3.5e-05)
- Structural context available