P80L (p.Pro80Leu) variant of TERF2 (Q15554)
P80L (p.Pro80Leu) in TERF2 (Q15554) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.20 / 1. The record also includes population frequency data and structural context.
P80L (p.Pro80Leu) variant details
- p.Pro80Leu
- gnomAD rs1352033745
- Missense
- Variant Prioritization Score for Impact Estimate 0.2
- REVEL 0.04
- MetaLR 0.06
- MetaSVM -1.09
- CADD 22.20
- PolyPhen-2 0.01
- SIFT 0.30
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available