P5S (p.Pro5Ser) variant of POT1 (Q9NUX5)
P5S (p.Pro5Ser) in POT1 (Q9NUX5) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.17 / 1. The record also includes population frequency data and structural context.
P5S (p.Pro5Ser) variant details
- p.Pro5Ser
- rs1378378085
- NCI-TCGA Cosmic COSV6292
- gnomAD rs1378378085
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.167
- REVEL 0.04
- CADD 23.50
- PolyPhen-2 0.01
- SIFT 0.23
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available