M8K (p.Met8Lys) variant of NTHL1 (Endonuclease III-like protein 1)
M8K (p.Met8Lys) in NTHL1 (Endonuclease III-like protein 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.37 / 1. The record also includes population frequency data and structural context.
M8K (p.Met8Lys) variant details
- p.Met8Lys
- ESP rs376966505
- ExAC rs376966505
- gnomAD rs376966505
- Missense
- Variant Prioritization Score for Impact Estimate 0.37
- CADD 21.10
- PolyPhen-2 0.05
- SIFT 0.03
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available