P29L (p.Pro29Leu) variant of SPTBN2 (O15020)
P29L (p.Pro29Leu) in SPTBN2 (O15020) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. The available variant effect predictions contribute to a CATVariant prioritization score of 0.36 / 1. The record also includes population frequency data.
P29L (p.Pro29Leu) variant details
- p.Pro29Leu
- rs1257151945
- NCI-TCGA Cosmic COSV5944
- cosmic curated COSV59445
- gnomAD rs1257151945
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.363
- REVEL 0.10
- CADD 22.80
- PolyPhen-2 0.17
- SIFT 0.11
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the Non-Finnish European population (allele frequency 8.1e-06)