N172K (p.Asn172Lys) variant of SPTBN2 (O15020)
N172K (p.Asn172Lys) in SPTBN2 (O15020) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.23 / 1. The record also includes population frequency data.
N172K (p.Asn172Lys) variant details
- p.Asn172Lys
- gnomAD rs1197833233
- Missense
- Variant Prioritization Score for Impact Estimate 0.232
- REVEL 0.10
- CADD 21.50
- PolyPhen-2 0.19
- SIFT 0.02
- Most common in the Latino/Admixed American population (allele frequency 2.2e-05)