K68Q (p.Lys68Gln) variant of NOS1AP (O75052)
K68Q (p.Lys68Gln) in NOS1AP (O75052) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.45 / 1. The record also includes population frequency data, published literature, and structural context.
K68Q (p.Lys68Gln) variant details
- p.Lys68Gln
- gnomAD 1-162287368-A-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.446
- REVEL 0.38
- MetaLR 0.11
- MetaSVM -0.87
- CADD 26.80
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available