A60S (p.Ala60Ser) variant of RINL (Q6ZS11)
A60S (p.Ala60Ser) in RINL (Q6ZS11) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not specified. The available variant effect predictions contribute to a CATVariant prioritization score of 0.58 / 1. The record also includes population frequency data.
A60S (p.Ala60Ser) variant details
- p.Ala60Ser
- ExAC rs754601875
- TOPMed rs754601875
- gnomAD rs754601875
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.577
- CADD 16.30
- PolyPhen-2 0.16
- SIFT 0.00
- ClinVar: Uncertain significance (not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available