V42M (p.Val42Met) variant of NOS1AP (O75052)
V42M (p.Val42Met) 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 0.54 / 1. The record also includes population frequency data and structural context.
V42M (p.Val42Met) variant details
- p.Val42Met
- rs1485553225
- NCI-TCGA Cosmic COSV1007
- cosmic curated COSV10072
- gnomAD rs1485553225
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.537
- REVEL 0.35
- CADD 29.10
- PolyPhen-2 0.95
- SIFT 0.02
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the Non-Finnish European population (allele frequency 4.5e-06)
- Structural context available