E98K (p.Glu98Lys) variant of NOS1AP (O75052)
E98K (p.Glu98Lys) in NOS1AP (O75052) 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 0.40 / 1. The record also includes population frequency data and structural context.
E98K (p.Glu98Lys) variant details
- p.Glu98Lys
- NCI-TCGA Cosmic COSV6263
- cosmic curated COSV62635
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.395
- REVEL 0.17
- CADD 23.10
- PolyPhen-2 0.11
- SIFT 0.08
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the South Asian population (allele frequency 2.3e-05)
- Structural context available