S63N (p.Ser63Asn) variant of POT1 (Q9NUX5)
S63N (p.Ser63Asn) 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 0.34 / 1. The record also includes population frequency data and structural context.
S63N (p.Ser63Asn) variant details
- p.Ser63Asn
- TOPMed rs1584777788
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.344
- REVEL 0.09
- CADD 18.20
- PolyPhen-2 0.05
- SIFT 0.44
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available