P7L (p.Pro7Leu) variant of SPTBN2 (O15020)
P7L (p.Pro7Leu) in SPTBN2 (O15020) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.41 / 1. The record also includes population frequency data.
P7L (p.Pro7Leu) variant details
- p.Pro7Leu
- TOPMed rs1239445065
- Missense
- Variant Prioritization Score for Impact Estimate 0.407
- REVEL 0.16
- CADD 23.20
- PolyPhen-2 0.39
- SIFT 0.06
- Most common in the Non-Finnish European population (allele frequency 9e-07)