N172Y (p.Asn172Tyr) variant of SPTBN2 (O15020)
N172Y (p.Asn172Tyr) in SPTBN2 (O15020) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.44 / 1. The record also includes population frequency data.
N172Y (p.Asn172Tyr) variant details
- p.Asn172Tyr
- TOPMed rs1373599834
- gnomAD rs1373599834
- Missense
- Variant Prioritization Score for Impact Estimate 0.438
- REVEL 0.29
- CADD 25.60
- PolyPhen-2 0.68
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 4.4e-05)