P10S (p.Pro10Ser) variant of TERF2 (Q15554)
P10S (p.Pro10Ser) in TERF2 (Q15554) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.48 / 1. The record also includes population frequency data, experimental measurements, and structural context.
P10S (p.Pro10Ser) variant details
- p.Pro10Ser
- gnomAD rs1244673970
- Missense
- Variant Prioritization Score for Impact Estimate 0.478
- CADD 17.40
- PolyPhen-2 0.00
- SIFT 0.52
- Most common in the African/African-American population (allele frequency 8.3e-05)
- Structural context available
- TERF2 SANT/Myb domain domainome 1.0: score -0.377