P29T (p.Pro29Thr) variant of SPTBN2 (O15020)
P29T (p.Pro29Thr) in SPTBN2 (O15020) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.33 / 1. The record also includes population frequency data.
P29T (p.Pro29Thr) variant details
- p.Pro29Thr
- TOPMed rs1942383524
- gnomAD rs1942383524
- Missense
- Variant Prioritization Score for Impact Estimate 0.326
- REVEL 0.04
- CADD 21.50
- Most common in the African/African-American population (allele frequency 2.4e-05)