S12I (p.Ser12Ile) variant of CARD9 (Q9H257)
S12I (p.Ser12Ile) in CARD9 (Q9H257) is a missense change. Clinical records from EBI and UniProt describe it as benign. The available variant effect predictions contribute to a CATVariant prioritization score of 0.25 / 1. The record also includes population frequency data.
S12I (p.Ser12Ile) variant details
- p.Ser12Ile
- 1000Genomes rs4077515
- ESP rs4077515
- ExAC rs4077515
- TOPMed rs4077515
- Benign
- Missense
- Variant Prioritization Score for Impact Estimate 0.249
- REVEL 0.03
- CADD 6.80
- PolyPhen-2 0.14
- SIFT 0.08
- EBI: Benign (in dbSNP:rs4077515)
- UniProt: Benign (in dbSNP:rs4077515)
- Most common in the Non-Finnish European population (allele frequency 9e-07)