P29L (p.Pro29Leu) variant of TERF2 (Q15554)
P29L (p.Pro29Leu) in TERF2 (Q15554) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.46 / 1. The record also includes population frequency data, experimental measurements, and structural context.
P29L (p.Pro29Leu) variant details
- p.Pro29Leu
- TOPMed rs1488603906
- gnomAD rs1488603906
- Missense
- Variant Prioritization Score for Impact Estimate 0.456
- CADD 25.30
- PolyPhen-2 0.99
- SIFT 0.00
- Most common in the South Asian population (allele frequency 0.00021)
- Structural context available
- TERF2 SANT/Myb domain domainome 1.0: score -0.116