S195P (p.Ser195Pro) variant of RAD21 (O60216)
S195P (p.Ser195Pro) in RAD21 (O60216) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Cornelia de Lange syndrome 4. The available variant effect predictions contribute to a CATVariant prioritization score of 0.24 / 1. The record also includes population frequency data and published literature.
S195P (p.Ser195Pro) variant details
- p.Ser195Pro
- rs755363046
- ClinGen CA4853045
- NCI-TCGA Cosmic COSV5206
- ClinVar RCV003646786
- Uncertain significance
- Cornelia de Lange syndrome 4
- Missense
- Variant Prioritization Score for Impact Estimate 0.241
- REVEL 0.06
- CADD 18.20
- PolyPhen-2 0.00
- SIFT 1.00
- ClinVar: Uncertain significance (Cornelia de Lange syndrome 4)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the East Asian population (allele frequency 0.00019)
- Cited in: Cornelia de Lange Syndrome. (PMID 20301283)