S12R (p.Ser12Arg) variant of SPTBN2 (O15020)
S12R (p.Ser12Arg) in SPTBN2 (O15020) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.38 / 1. The record also includes population frequency data.
S12R (p.Ser12Arg) variant details
- p.Ser12Arg
- cosmic curated COSV59458
- Missense
- Variant Prioritization Score for Impact Estimate 0.385
- REVEL 0.28
- CADD 24.80
- PolyPhen-2 0.55
- SIFT 0.01
- Most common in the Non-Finnish European population (allele frequency 9e-07)