N54S (p.Asn54Ser) variant of POT1 (Q9NUX5)
N54S (p.Asn54Ser) in POT1 (Q9NUX5) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.26 / 1. The record also includes population frequency data and structural context.
N54S (p.Asn54Ser) variant details
- p.Asn54Ser
- 1000Genomes rs561750523
- ExAC rs561750523
- gnomAD rs561750523
- Missense
- Variant Prioritization Score for Impact Estimate 0.261
- REVEL 0.15
- CADD 23.10
- PolyPhen-2 0.29
- SIFT 0.04
- Most common in the 1KG:ESN population (allele frequency 0.0049)
- Structural context available