Y60C (p.Tyr60Cys) variant of NOS1AP (O75052)
Y60C (p.Tyr60Cys) in NOS1AP (O75052) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.38 / 1. The record also includes population frequency data and structural context.
Y60C (p.Tyr60Cys) variant details
- p.Tyr60Cys
- TOPMed rs1373344682
- gnomAD rs1373344682
- Missense
- Variant Prioritization Score for Impact Estimate 0.378
- REVEL 0.28
- CADD 23.90
- PolyPhen-2 0.82
- SIFT 0.02
- Most common in the HGDP:BALOCHI population (allele frequency 0.022)
- Structural context available