S2Y (p.Ser2Tyr) variant of POT1 (Q9NUX5)
S2Y (p.Ser2Tyr) in POT1 (Q9NUX5) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. The available variant effect predictions contribute to a CATVariant prioritization score of 0.42 / 1. The record also includes population frequency data and structural context.
S2Y (p.Ser2Tyr) variant details
- p.Ser2Tyr
- NCI-TCGA Cosmic COSV6292
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.423
- REVEL 0.23
- CADD 26.40
- PolyPhen-2 0.82
- SIFT 0.00
- UniProt: Variant assessed as somatic; moderate impact.
- Population evidence available
- Structural context available