A178S (p.Ala178Ser) variant of SPTBN2 (O15020)
A178S (p.Ala178Ser) in SPTBN2 (O15020) is a missense change. Clinical records from EBI and UniProt describe it as likely pathogenic. The available variant effect predictions contribute to a CATVariant prioritization score of 0.57 / 1. The record also includes population frequency data.
A178S (p.Ala178Ser) variant details
- p.Ala178Ser
- gnomAD rs1057524761
- Likely pathogenic
- Missense
- Variant Prioritization Score for Impact Estimate 0.57
- REVEL 0.42
- CADD 24.80
- PolyPhen-2 1.00
- SIFT 0.00
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Most common in the African/African-American population (allele frequency 2.4e-05)