P27A (p.Pro27Ala) variant of SLC9A6 (Sodium/hydrogen exchanger 6)
P27A (p.Pro27Ala) in SLC9A6 (Sodium/hydrogen exchanger 6) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.62 / 1. The record also includes population frequency data, published literature, and structural context.
P27A (p.Pro27Ala) variant details
- p.Pro27Ala
- gnomAD X-135994827-C-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.62
- CADD 17.40
- PolyPhen-2 0.14
- SIFT 0.08
- Most common in the Non-Finnish European population (allele frequency 1.2e-06)
- Structural context available
- Literature evidence available