S263T (p.Ser263Thr) variant of SMARCA2 (P51531)
S263T (p.Ser263Thr) in SMARCA2 (P51531) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Pituitary stalk interruption syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.29 / 1. The record also includes structural context.
S263T (p.Ser263Thr) variant details
- p.Ser263Thr
- rs1819528679
- ClinGen CA372780666
- ClinVar RCV001257301
- Ensembl rs1819528679
- Likely pathogenic
- Pituitary stalk interruption syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.288
- AlphaMissense 0.08
- MetaLR 0.04
- MetaSVM -1.06
- PolyPhen-2 0.03
- SIFT 0.31
- EVE 0.11
- ClinVar: Likely pathogenic (Pituitary stalk interruption syndrome)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available