R24L (p.Arg24Leu) variant of SPTBN4 (Q9H254)
R24L (p.Arg24Leu) in SPTBN4 (Q9H254) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.51 / 1. The record also includes population frequency data and structural context.
R24L (p.Arg24Leu) variant details
- p.Arg24Leu
- rs146428235
- NCI-TCGA Cosmic COSV5894
- ESP rs146428235
- ExAC rs146428235
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.514
- CADD 22.50
- PolyPhen-2 0.25
- SIFT 0.00
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 7.2e-05)
- Structural context available