Q103P (p.Gln103Pro) variant of CEP290 (Centrosomal protein of 290 kDa)
Q103P (p.Gln103Pro) in CEP290 (Centrosomal protein of 290 kDa) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.33 / 1. The record also includes population frequency data and structural context.
Q103P (p.Gln103Pro) variant details
- p.Gln103Pro
- ExAC rs766609759
- gnomAD rs766609759
- Missense
- Variant Prioritization Score for Impact Estimate 0.331
- REVEL 0.22
- CADD 20.20
- PolyPhen-2 0.23
- SIFT 0.09
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available