T1969A (p.Thr1969Ala) variant of CR1 (Complement receptor type 1)
T1969A (p.Thr1969Ala) in CR1 (Complement receptor type 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.26 / 1. The record also includes published literature.
T1969A (p.Thr1969Ala) variant details
- p.Thr1969Ala
- rs2296160
- UniProt VAR 055686
- Missense
- Variant Prioritization Score for Impact Estimate 0.256
- AlphaMissense 0.08
- MetaLR 0.00
- MetaSVM -1.01
- PolyPhen-2 0.00
- SIFT 0.99
- Cited in: Ramp Sequence May Explain Synonymous Variant Association with Alzheimer's Disease in the Paired Immunoglobulin-like… (PMID 40149715)
- Cited in: Ramp sequence may explain synonymous variant association with Alzheimer's disease in the Paired Immunoglobulin-like… (PMID 39829933)