L74P (p.Leu74Pro) variant of SLC9A6 (Sodium/hydrogen exchanger 6)
L74P (p.Leu74Pro) in SLC9A6 (Sodium/hydrogen exchanger 6) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.58 / 1. The record also includes population frequency data and published literature.
L74P (p.Leu74Pro) variant details
- p.Leu74Pro
- gnomAD X-135994801-T-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.578
- CADD 26.60
- PolyPhen-2 0.67
- SIFT 0.01
- Population evidence available
- Literature evidence available