K48R (p.Lys48Arg) variant of NTHL1 (Endonuclease III-like protein 1)
K48R (p.Lys48Arg) in NTHL1 (Endonuclease III-like protein 1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.61 / 1. The record also includes population frequency data and structural context.
K48R (p.Lys48Arg) variant details
- p.Lys48Arg
- rs2084385937
- ClinGen CA394297989
- ClinVar RCV001325137
- Ensembl rs2084385937
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.609
- CADD 4.99
- PolyPhen-2 0.00
- SIFT 0.32
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available