Y60F (p.Tyr60Phe) variant of NOS1AP (O75052)
Y60F (p.Tyr60Phe) in NOS1AP (O75052) is a missense change. 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.
Y60F (p.Tyr60Phe) variant details
- p.Tyr60Phe
- TOPMed rs1373344682
- gnomAD rs1373344682
- Missense
- Variant Prioritization Score for Impact Estimate 0.374
- REVEL 0.28
- CADD 23.40
- PolyPhen-2 1.00
- SIFT 0.01
- Most common in the South Asian population (allele frequency 2.3e-05)
- Structural context available