F62L (p.Phe62Leu) variant of POT1 (Q9NUX5)
F62L (p.Phe62Leu) 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 0.71 / 1. The record also includes population frequency data and structural context.
F62L (p.Phe62Leu) variant details
- p.Phe62Leu
- NCI-TCGA Cosmic COSV1007
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.708
- REVEL 0.76
- CADD 26.40
- PolyPhen-2 0.64
- SIFT 0.00
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available