Q124R (p.Gln124Arg) variant of SPTBN2 (O15020)
Q124R (p.Gln124Arg) in SPTBN2 (O15020) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.53 / 1. The record also includes population frequency data.
Q124R (p.Gln124Arg) variant details
- p.Gln124Arg
- gnomAD rs1164430196
- Missense
- Variant Prioritization Score for Impact Estimate 0.534
- REVEL 0.45
- CADD 26.10
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)