A13P (p.Ala13Pro) variant of SDHA (P31040)
A13P (p.Ala13Pro) in SDHA (P31040) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.15 / 1. The record also includes population frequency data, published literature, and structural context.
A13P (p.Ala13Pro) variant details
- p.Ala13Pro
- gnomAD 5-218392-G-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.148
- REVEL 0.16
- CADD 8.97
- PolyPhen-2 0.01
- SIFT 0.33
- Most common in the Non-Finnish European population (allele frequency 9.6e-07)
- Structural context available
- Literature evidence available