L4S (p.Leu4Ser) variant of NTHL1 (Endonuclease III-like protein 1)
L4S (p.Leu4Ser) in NTHL1 (Endonuclease III-like protein 1) is a missense change. Clinical records from EBI and UniProt describe it as pathogenic. The available variant effect predictions contribute to a CATVariant prioritization score of 0.11 / 1. The record also includes population frequency data and structural context.
L4S (p.Leu4Ser) variant details
- p.Leu4Ser
- Ensembl rs1413587495
- Pathogenic
- Missense
- Variant Prioritization Score for Impact Estimate 0.111
- CADD 7.64
- PolyPhen-2 0.00
- SIFT 0.15
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available