S47N (p.Ser47Asn) variant of NOS1AP (O75052)
S47N (p.Ser47Asn) 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 0.43 / 1. The record also includes population frequency data and structural context.
S47N (p.Ser47Asn) variant details
- p.Ser47Asn
- rs757647988
- NCI-TCGA Cosmic COSV1007
- cosmic curated COSV10072
- ExAC rs757647988
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.434
- REVEL 0.19
- CADD 25.80
- PolyPhen-2 0.95
- SIFT 0.05
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the Non-Finnish European population (allele frequency 7.2e-06)
- Structural context available