L71P (p.Leu71Pro) variant of SPTBN2 (O15020)
L71P (p.Leu71Pro) in SPTBN2 (O15020) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.81 / 1. The record also includes population frequency data.
L71P (p.Leu71Pro) variant details
- p.Leu71Pro
- gnomAD rs1241364345
- Missense
- Variant Prioritization Score for Impact Estimate 0.809
- REVEL 0.92
- CADD 28.70
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the Finnish in Finland (FIN) population (allele frequency 9.4e-05)