L184R (p.Leu184Arg) variant of SPTBN2 (O15020)
L184R (p.Leu184Arg) in SPTBN2 (O15020) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.78 / 1. The record also includes population frequency data.
L184R (p.Leu184Arg) variant details
- p.Leu184Arg
- ExAC rs751600453
- gnomAD rs751600453
- Missense
- Variant Prioritization Score for Impact Estimate 0.777
- REVEL 0.87
- CADD 27.20
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 9e-07)