P5L (p.Pro5Leu) variant of POT1 (Q9NUX5)
P5L (p.Pro5Leu) in POT1 (Q9NUX5) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.32 / 1. The record also includes population frequency data and structural context.
P5L (p.Pro5Leu) variant details
- p.Pro5Leu
- Ensembl rs2116629990
- Missense
- Variant Prioritization Score for Impact Estimate 0.316
- REVEL 0.03
- CADD 35.00
- PolyPhen-2 0.06
- SIFT 0.01
- Most common in the Ashkenazi Jewish population (allele frequency 4.9e-05)
- Structural context available