P104S (p.Pro104Ser) variant of SPTBN2 (O15020)
P104S (p.Pro104Ser) in SPTBN2 (O15020) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.76 / 1. The record also includes population frequency data.
P104S (p.Pro104Ser) variant details
- p.Pro104Ser
- gnomAD rs1942089761
- Missense
- Variant Prioritization Score for Impact Estimate 0.758
- REVEL 0.71
- CADD 33.00
- Most common in the Latino/Admixed American population (allele frequency 6.5e-05)