P33S (p.Pro33Ser) variant of SMARCA2 (P51531)
P33S (p.Pro33Ser) 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; Nicolaides-Baraitser syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.55 / 1. The record also includes population frequency data, published literature, and structural context.
P33S (p.Pro33Ser) variant details
- p.Pro33Ser
- rs146990134
- ClinGen CA4962751
- ClinVar RCV000263654
- ClinVar RCV001653759
- Benign/Likely benign
- Inborn genetic diseases; not provided; Nicolaides-Baraitser syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.555
- REVEL 0.39
- AlphaMissense 0.18
- MetaLR 0.74
- MetaSVM 0.46
- CADD 23.90
- PolyPhen-2 1.00
- ClinVar: Benign/Likely benign (Inborn genetic diseases; not provided; Nicolaides-Baraitser synd)
- EBI: Benign
- UniProt: Benign
- Most common in the REMAINING population (allele frequency 0.00048)
- Structural context available
- Cited in: Specific guidelines for assessing and improving the methodological quality of economic evaluations of newborn screening. (PMID 22947299)
- Cited in: Including the initial newborn screening bloodspot collection device serial number on birth certificates: basis and… (PMID 23037933)