S132L (p.Ser132Leu) variant of ABCC6 (O95255)
S132L (p.Ser132Leu) in ABCC6 (O95255) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.43 / 1. The record also includes population frequency data and structural context.
S132L (p.Ser132Leu) variant details
- p.Ser132Leu
- 1000Genomes rs545855341
- TOPMed rs545855341
- Missense
- Variant Prioritization Score for Impact Estimate 0.427
- REVEL 0.27
- CADD 23.70
- PolyPhen-2 0.33
- SIFT 0.00
- Most common in the HGDP:SAN population (allele frequency 0.1)
- Structural context available