N8D (p.Asn8Asp) variant of POT1 (Q9NUX5)
N8D (p.Asn8Asp) in POT1 (Q9NUX5) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Tumor predisposition syndrome 3; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.31 / 1. The record also includes population frequency data, published literature, and structural context.
N8D (p.Asn8Asp) variant details
- p.Asn8Asp
- rs1454480268
- ClinGen CA369066299
- ClinVar RCV001313168
- ClinVar RCV003235545
- Uncertain significance
- Tumor predisposition syndrome 3; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.31
- REVEL 0.03
- CADD 14.40
- PolyPhen-2 0.01
- SIFT 0.15
- ClinVar: Uncertain significance (Tumor predisposition syndrome 3; not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available
- Cited in: POT1 Tumor Predisposition. (PMID 33119245)