L104F (p.Leu104Phe) variant of ABCC9 (O60706)
L104F (p.Leu104Phe) in ABCC9 (O60706) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.63 / 1. The record also includes population frequency data and structural context.
L104F (p.Leu104Phe) variant details
- p.Leu104Phe
- gnomAD rs1221054217
- Missense
- Variant Prioritization Score for Impact Estimate 0.626
- REVEL 0.72
- CADD 24.60
- PolyPhen-2 0.98
- SIFT 0.00
- Most common in the HGDP:BANTUSOUTHAFRICA population (allele frequency 0.062)
- Structural context available