P11S (p.Pro11Ser) variant of SMARCA2 (P51531)
P11S (p.Pro11Ser) in SMARCA2 (P51531) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as benign/likely benign in the context of Inborn genetic diseases; not provided; Blepharophimosis-impaired intellectual de. The available variant effect predictions contribute to a CATVariant prioritization score of 0.42 / 1. The record also includes population frequency data, published literature, and structural context.
P11S (p.Pro11Ser) variant details
- p.Pro11Ser
- rs145516397
- ClinGen CA4962739
- ClinVar RCV002598994
- ClinVar RCV005399119
- Benign/Likely benign
- Inborn genetic diseases; not provided; Blepharophimosis-impaired intellectual de
- Missense
- Variant Prioritization Score for Impact Estimate 0.421
- REVEL 0.28
- AlphaMissense 0.17
- MetaLR 0.51
- MetaSVM -0.29
- CADD 20.90
- PolyPhen-2 0.02
- ClinVar: Benign/Likely benign (Inborn genetic diseases; not provided; Blepharophimosis-impaired)
- EBI: Benign
- UniProt: Benign
- Most common in the 1KG:MSL population (allele frequency 0.013)
- Structural context available
- Cited in: SMARCA2-Related Nicolaides-Baraitser Syndrome. (PMID 26468571)