N35I (p.Asn35Ile) variant of SPTBN2 (O15020)
N35I (p.Asn35Ile) in SPTBN2 (O15020) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.42 / 1. The record also includes population frequency data.
N35I (p.Asn35Ile) variant details
- p.Asn35Ile
- ESP rs370531619
- ExAC rs370531619
- TOPMed rs370531619
- gnomAD rs370531619
- Missense
- Variant Prioritization Score for Impact Estimate 0.418
- REVEL 0.26
- CADD 26.20
- PolyPhen-2 0.60
- SIFT 0.03
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)