P11T (p.Pro11Thr) variant of SMARCA2 (P51531)
P11T (p.Pro11Thr) in SMARCA2 (P51531) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Nicolaides-Baraitser syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.45 / 1. The record also includes population frequency data, published literature, and structural context.
P11T (p.Pro11Thr) variant details
- p.Pro11Thr
- rs145516397
- ClinGen CA372779018
- ClinVar RCV000626169
- 1000Genomes rs145516397
- Uncertain significance
- Nicolaides-Baraitser syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.447
- AlphaMissense 0.17
- MetaLR 0.51
- MetaSVM -0.29
- PolyPhen-2 0.02
- SIFT 0.53
- EVE 0.22
- ClinVar: Uncertain significance (Nicolaides-Baraitser syndrome)
- EBI: Benign
- UniProt: Benign
- Population evidence available
- Structural context available
- Cited in: SMARCA2-Related Nicolaides-Baraitser Syndrome. (PMID 26468571)