D84N (p.Asp84Asn) variant of SPTBN2 (O15020)
D84N (p.Asp84Asn) in SPTBN2 (O15020) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.79 / 1. The record also includes population frequency data.
D84N (p.Asp84Asn) variant details
- p.Asp84Asn
- cosmic curated COSV59446
- gnomAD rs1272630539
- Missense
- Variant Prioritization Score for Impact Estimate 0.795
- REVEL 0.80
- CADD 26.20
- PolyPhen-2 0.99
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 1.2e-05)