L63F (p.Leu63Phe) variant of ABCC6 (O95255)
L63F (p.Leu63Phe) in ABCC6 (O95255) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.20 / 1. The record also includes population frequency data and structural context.
L63F (p.Leu63Phe) variant details
- p.Leu63Phe
- cosmic curated COSV10506
- TOPMed rs978223068
- gnomAD rs978223068
- Missense
- Variant Prioritization Score for Impact Estimate 0.202
- REVEL 0.12
- CADD 22.70
- PolyPhen-2 0.55
- SIFT 0.00
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available