L77P (p.Leu77Pro) variant of TERF2 (Q15554)
L77P (p.Leu77Pro) in TERF2 (Q15554) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.30 / 1. The record also includes population frequency data and structural context.
L77P (p.Leu77Pro) variant details
- p.Leu77Pro
- TOPMed rs1483680905
- Missense
- Variant Prioritization Score for Impact Estimate 0.302
- REVEL 0.10
- MetaLR 0.13
- MetaSVM -0.90
- CADD 23.60
- PolyPhen-2 0.75
- SIFT 0.14
- Most common in the Non-Finnish European population (allele frequency 9.6e-07)
- Structural context available