V81A (p.Val81Ala) variant of NOS1AP (O75052)
V81A (p.Val81Ala) in NOS1AP (O75052) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.48 / 1. The record also includes population frequency data, published literature, and structural context.
V81A (p.Val81Ala) variant details
- p.Val81Ala
- gnomAD 1-162287408-T-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.48
- REVEL 0.44
- MetaLR 0.17
- MetaSVM -0.55
- CADD 26.40
- PolyPhen-2 0.99
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available
- Literature evidence available