P35L (p.Pro35Leu) variant of POT1 (Q9NUX5)
P35L (p.Pro35Leu) in POT1 (Q9NUX5) is a missense change. Clinical records from ClinVar and UniProt describe it as conflicting interpretations in the context of Pulmonary fibrosis and/or bone marrow failure syndrome, telomere-related, 8; Tum. The available variant effect predictions contribute to a CATVariant prioritization score of 0.65 / 1. The record also includes population frequency data and structural context.
P35L (p.Pro35Leu) variant details
- p.Pro35Leu
- NCI-TCGA Cosmic COSV6293
- Conflicting interpretations
- Pulmonary fibrosis and/or bone marrow failure syndrome, telomere-related, 8; Tum
- Missense
- Variant Prioritization Score for Impact Estimate 0.646
- REVEL 0.56
- CADD 27.60
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Conflicting classifications of pathogenicity (Pulmonary fibrosis and/or bone marrow failure syndrome, telomere)
- UniProt: Conflicting interpretations
- Population evidence available
- Structural context available