D171N (p.Asp171Asn) variant of SPTBN2 (O15020)
D171N (p.Asp171Asn) in SPTBN2 (O15020) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.51 / 1. The record also includes population frequency data.
D171N (p.Asp171Asn) variant details
- p.Asp171Asn
- ExAC rs755741689
- gnomAD rs755741689
- Missense
- Variant Prioritization Score for Impact Estimate 0.506
- REVEL 0.29
- CADD 27.70
- PolyPhen-2 0.97
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)