A53T (p.Ala53Thr) variant of NOS1AP (O75052)
A53T (p.Ala53Thr) 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 0.37 / 1. The record also includes population frequency data and structural context.
A53T (p.Ala53Thr) variant details
- p.Ala53Thr
- NCI-TCGA Cosmic COSV6263
- NCI-TCGA Cosmic COSV6264
- cosmic curated COSV62640
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.366
- REVEL 0.10
- CADD 22.90
- PolyPhen-2 0.23
- SIFT 0.15
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the Non-Finnish European population (allele frequency 4.5e-06)
- Structural context available