V4D (p.Val4Asp) variant of POT1 (Q9NUX5)
V4D (p.Val4Asp) 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. The available variant effect predictions contribute to a CATVariant prioritization score of 0.23 / 1. The record also includes population frequency data, published literature, and structural context.
V4D (p.Val4Asp) variant details
- p.Val4Asp
- rs2116630010
- ClinGen CA369066335
- ClinVar RCV002024094
- Ensembl rs2116630010
- Uncertain significance
- Tumor predisposition syndrome 3
- Missense
- Variant Prioritization Score for Impact Estimate 0.231
- REVEL 0.07
- CADD 23.10
- PolyPhen-2 0.11
- SIFT 0.03
- ClinVar: Uncertain significance (Tumor predisposition syndrome 3)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 1.9e-05)
- Structural context available
- Cited in: POT1 Tumor Predisposition. (PMID 33119245)