R41L (p.Arg41Leu) variant of SPTBN2 (O15020)
R41L (p.Arg41Leu) in SPTBN2 (O15020) is a missense change. Clinical records from EBI and UniProt describe it as likely benign. The available variant effect predictions contribute to a CATVariant prioritization score of 0.53 / 1. The record also includes population frequency data.
R41L (p.Arg41Leu) variant details
- p.Arg41Leu
- cosmic curated COSV10882
- 1000Genomes rs149103293
- ESP rs149103293
- ExAC rs149103293
- Likely benign
- Missense
- Variant Prioritization Score for Impact Estimate 0.528
- REVEL 0.34
- CADD 26.30
- PolyPhen-2 0.96
- SIFT 0.00
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the REMAINING population (allele frequency 0.00048)