I10S (p.Ile10Ser) variant of ABCC9 (O60706)
I10S (p.Ile10Ser) in ABCC9 (O60706) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.25 / 1. The record also includes population frequency data and structural context.
I10S (p.Ile10Ser) variant details
- p.Ile10Ser
- Ensembl rs1949499045
- Missense
- Variant Prioritization Score for Impact Estimate 0.254
- REVEL 0.26
- CADD 13.50
- PolyPhen-2 0.00
- SIFT 0.85
- Most common in the HGDP:MBUTI population (allele frequency 0.29)
- Structural context available