S23R (p.Ser23Arg) variant of ERBB4 (Q15303)
S23R (p.Ser23Arg) in ERBB4 (Q15303) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.33 / 1. The record also includes population frequency data and structural context.
S23R (p.Ser23Arg) variant details
- p.Ser23Arg
- gnomAD rs1407234754
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.333
- REVEL 0.16
- CADD 23.50
- PolyPhen-2 0.05
- SIFT 0.19
- ClinVar: Uncertain significance (not provided)
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available