P27L (p.Pro27Leu) variant of SLC9A6 (Sodium/hydrogen exchanger 6)
P27L (p.Pro27Leu) in SLC9A6 (Sodium/hydrogen exchanger 6) 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, published literature, and structural context.
P27L (p.Pro27Leu) variant details
- p.Pro27Leu
- rs782469016
- gnomAD X-135994828-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.477
- AlphaMissense 0.20
- MetaLR 0.03
- MetaSVM -1.09
- CADD 23.20
- PolyPhen-2 0.01
- SIFT 0.01
- Most common in the Latino/Admixed American population (allele frequency 0.00011)
- Structural context available
- Literature evidence available