P21T (p.Pro21Thr) variant of RAD51C (O43502)
P21T (p.Pro21Thr) in RAD51C (O43502) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Fanconi anemia complementation group O. The available variant effect predictions contribute to a CATVariant prioritization score of 0.31 / 1. The record also includes published literature and structural context.
P21T (p.Pro21Thr) variant details
- p.Pro21Thr
- rs752608224
- NCI-TCGA Cosmic COSV5361
- cosmic curated COSV53612
- Uncertain significance
- Fanconi anemia complementation group O
- Missense
- Variant Prioritization Score for Impact Estimate 0.308
- AlphaMissense 0.18
- MetaLR 0.09
- MetaSVM -1.09
- PolyPhen-2 0.05
- SIFT 0.04
- EVE 0.19
- ClinVar: Uncertain significance (Fanconi anemia complementation group O)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available
- Cited in: Fanconi Anemia. (PMID 20301575)