A53V (p.Ala53Val) variant of NOS1AP (O75052)
A53V (p.Ala53Val) in NOS1AP (O75052) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.36 / 1. The record also includes population frequency data, published literature, and structural context.
A53V (p.Ala53Val) variant details
- p.Ala53Val
- gnomAD 1-162154457-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.363
- REVEL 0.12
- MetaLR 0.06
- MetaSVM -1.09
- CADD 27.40
- PolyPhen-2 0.69
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 3.6e-06)
- Structural context available
- Literature evidence available