S138N (p.Ser138Asn) variant of CARD9 (Q9H257)
S138N (p.Ser138Asn) in CARD9 (Q9H257) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. The available variant effect predictions contribute to a CATVariant prioritization score of 0.19 / 1. The record also includes population frequency data.
S138N (p.Ser138Asn) variant details
- p.Ser138Asn
- NCI-TCGA TCGA novel
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.192
- REVEL 0.03
- CADD 10.20
- PolyPhen-2 0.06
- SIFT 0.41
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the Non-Finnish European population (allele frequency 9e-07)