P58L (p.Pro58Leu) variant of SMARCA2 (P51531)
P58L (p.Pro58Leu) in SMARCA2 (P51531) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely benign in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.45 / 1. The record also includes population frequency data and structural context.
P58L (p.Pro58Leu) variant details
- p.Pro58Leu
- rs764338204
- ClinGen CA4962766
- ClinVar RCV001942824
- ExAC rs764338204
- Likely benign
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.447
- REVEL 0.33
- AlphaMissense 0.16
- MetaLR 0.46
- MetaSVM -0.02
- CADD 23.10
- PolyPhen-2 0.68
- ClinVar: Likely benign (not provided)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the Middle Eastern population (allele frequency 0.00017)
- Structural context available