F138L (p.Phe138Leu) variant of ABCC9 (O60706)
F138L (p.Phe138Leu) in ABCC9 (O60706) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.51 / 1. The record also includes population frequency data and structural context.
F138L (p.Phe138Leu) variant details
- p.Phe138Leu
- gnomAD rs1391366926
- Missense
- Variant Prioritization Score for Impact Estimate 0.51
- REVEL 0.47
- CADD 18.90
- PolyPhen-2 0.03
- SIFT 1.00
- Most common in the HGDP:YORUBA population (allele frequency 0.026)
- Structural context available