Y10D (p.Tyr10Asp) variant of CCR5 (C-C chemokine receptor type 5)
Y10D (p.Tyr10Asp) in CCR5 (C-C chemokine receptor type 5) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance in the context of in INCCR5-71A. The available variant effect predictions contribute to a CATVariant prioritization score of 0.24 / 1. The record also includes population frequency data, published literature, and structural context.
Y10D (p.Tyr10Asp) variant details
- p.Tyr10Asp
- UniProt VAR 003481
- Uncertain significance
- in INCCR5-71A
- Missense
- Variant Prioritization Score for Impact Estimate 0.242
- REVEL 0.20
- CADD 12.40
- PolyPhen-2 0.41
- SIFT 0.03
- EBI: Variant of uncertain significance (in INCCR5-71A)
- UniProt: Uncertain significance (in INCCR5-71A)
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available
- Cited in: Sialylated O-glycans and sulfated tyrosines in the NH2-terminal domain of CC chemokine receptor 5 contribute to high… (PMID 11733580)