N35S (p.Asn35Ser) variant of SPTBN2 (O15020)
N35S (p.Asn35Ser) in SPTBN2 (O15020) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.31 / 1. The record also includes population frequency data.
N35S (p.Asn35Ser) variant details
- p.Asn35Ser
- ESP rs370531619
- ExAC rs370531619
- TOPMed rs370531619
- gnomAD rs370531619
- Missense
- Variant Prioritization Score for Impact Estimate 0.314
- REVEL 0.12
- CADD 21.80
- PolyPhen-2 0.02
- SIFT 0.24
- Most common in the REMAINING population (allele frequency 1.7e-05)